SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs6920234 | snp | A/T | | | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18124298 | gtcaccaggctggag[A/T]gcagtggcgcgatct | 378884 |
rs9477631 | snp | A/G | 0.480302 | 0.0972668 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123541 | AGAGGAGGTCTCACT[A/G]TGTTGCCTAGGCTGG | 378884 |
rs10949480 | snp | A/G | 0.108402 | 0.206034 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18120793 | TTGAATTCAAATTGG[A/G]ACTAAGGCAGTAAGT | 378884 |
rs10949481 | snp | A/T | 0.155656 | 0.231515 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18120798 | TTCAAATTGGGACTA[A/T]GGCAGTAAGTAACTA | 378884 |
rs10949482 | snp | C/T | 0.123105 | 0.215401 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121083 | gctgaggtggaagga[C/T]cacctgagcggggga | 378884 |
rs10949483 | snp | A/G | 0.487561 | 0.0778762 | NHLRC1 | 6 | allele_origin=G(germline)/A(germline) | 6:18122275 | CAGGTGAGGGCTCCG[A/G]GGGCGCTGGGGGCGG | 378884 |
rs11966748 | snp | C/G | 0.0295035 | 0.117819 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121143 | cttctgcactccagc[C/G]tgggtgacagagctt | 378884 |
rs11966789 | snp | C/G | 0.0130921 | 0.0798413 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121364 | ttatccagggttaaa[C/G]aattcattaatggca | 378884 |
rs12111366 | snp | C/G | 0.0898077 | 0.191933 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18122711 | GTGCGCCCTGACGTC[C/G]AGCGCCGCGGGCCTC | 378884 |
rs12199316 | snp | C/G | 0.471768 | 0.115407 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123271 | GAGTGTCAGATGGGG[C/G]AACCATGCTGGAAGT | 378884 |
rs13216461 | snp | C/T | 0.49931 | 0.0185575 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123973 | GGTAAACAcctgggt[C/T]gcacccgaaaagttt | 378884 |
rs28940575 | snp | A/T | | | missense | NHLRC1 | GRCh38.p7 | 6:18122531 | ATCAGCCTGCTCGAG[A/T]GCAAGGTGTGCTTTG | 378884 |
rs28940576 | snp | C/G | 0.000215223 | 0.0103714 | NHLRC1 | 6 | allele_origin=G(germline)/C(germline) | 6:18122402 | CTGGCCCTCGAGTGC[C/G]CATTCTGCAGGCGAG | 378884 |
rs34372710 | in-del | -/A | | | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121274 | GGTAGATTAATCTCC[-/A]ATAACTGTCCCAAGC | 378884 |
rs34496612 | in-del | -/T | | | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121219 | TTAAATAAGCTAATA[-/T]TTTGCAAATTTCCTT | 378884 |
rs34551044 | in-del | -/G | | | frameshift-variant | NHLRC1 | GRCh38.p7 | 6:18121891 | CGTCCAGGAGGTGCA[-/G]GGGACCCTGCCTCCG | 378884 |
rs35660419 | in-del | -/C | | | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18122623 | CGCGTCCTGTGCACT[-/C]CCCGCCGCGCCGCCT | 378884 |
rs35866538 | in-del | -/T | | | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123067 | TATGATCTGAACCGG[-/T]AAAACACGAACACAC | 378884 |
rs41267730 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18122905 | TATTGAGGACAACAG[A/G]ATTGCTCCCTGTCAC | 378884 |
rs55738521 | snp | C/T | 0.123105 | 0.215401 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120323 | AAGCAAACAAACAAA[C/T]GAAAAAACCCCATAA | 378884 |
rs62395733 | snp | C/T | 0.00199481 | 0.0315187 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123664 | CATATGCCTGCCCCA[C/T]TGTGTTAGGTTGGTG | 378884 |
rs72839174 | snp | A/G/T | 0.00755907 | 0.0610114 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18120544 | TTCACGTAACTCAGG[A/G/T]TCAACAGTAACTTCA | 378884 |
rs72839175 | snp | C/T | 0.0726307 | 0.176182 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18124251 | TTTTCTTTCTTTTTT[C/T]TTTTTTTCTTTTTGA | 378884 |
rs73379118 | snp | A/G | 0.0352966 | 0.128072 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121182 | CTTGGGGGGGAAGAA[A/G]TTACCTCACTGGATA | 378884 |
rs73379121 | snp | A/T | 0.0349115 | 0.127424 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121334 | TCCCTGCCTGGATAG[A/T]TGAGTTTAAGTGACT | 378884 |
rs73379122 | snp | A/C | 0.113334 | 0.209338 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123232 | GAACAACAACAACAA[A/C]AAAAAAAAATCAACG | 378884 |
rs73724421 | snp | A/C | 0.00755907 | 0.0610114 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123925 | TGACTTCAGAGTTAC[A/C]TATTTTAGTCATTTT | 378884 |
rs73724422 | snp | C/T | 0.084364 | 0.187256 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123999 | AGTTTAATTGGCCCA[C/T]GGTGTGGTCTGGACA | 378884 |
rs75231955 | snp | C/T | | | missense | NHLRC1 | GRCh38.p7 | 6:18122162 | AAATCTTGACACGCC[C/T]CCTGCCGTCGTGCAC | 378884 |
rs75289348 | snp | A/G | 0.123105 | 0.215401 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120253 | TCGAGGCTGCAGTGA[A/G]CAGTGATCAATCCAC | 378884 |
rs75346787 | snp | C/G | 0.5 | 0 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123417 | GCAGGGGCACGATCA[C/G]AGCTCACTGCAGCCT | 378884 |
rs75407001 | snp | C/T | 0.10443 | 0.205456 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120062 | CCTATAGTCCCAATG[C/T]TTTGGGAGGCCAAGG | 378884 |
rs75690976 | snp | A/G | 0.00358779 | 0.0422022 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18119996 | TTGTGGACTGGCATG[A/G]GAGTTAGGCTCTCGC | 378884 |
rs75742552 | snp | A/T | 0.5 | 0 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123512 | ACTAGGCTAATTTTT[A/T]AATTTTTTTGTAGAG | 378884 |
rs77117317 | snp | A/G | 0.0162398 | 0.0886349 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123002 | CCAATCCGCAGCGCC[A/G]GGTGCTACGGCTGTC | 378884 |
rs77353348 | snp | C/T | 0.123105 | 0.215401 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120169 | TAAAAATTAGCTGGG[C/T]ATGGTGACACACCTG | 378884 |
rs78324544 | snp | A/G | 0.000378978 | 0.0137603 | missense | NHLRC1 | GRCh38.p7 | 6:18121516 | AGAGCCACAGGATGC[A/G]AAAGACCATGAGTGA | 378884 |
rs79197160 | snp | C/T | 0.00755907 | 0.0610114 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121099 | CACCTGAGCGGGGGA[C/T]GTTGAAACTGTAGTG | 378884 |
rs79300179 | snp | A/G | 0.0162398 | 0.0886349 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120479 | GGAGAAGATATAGGC[A/G]TTAAAAGACATGTTT | 378884 |
rs79527497 | snp | G/T | | | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123696 | AAAGGATTCGCAGTG[G/T]TTGCCATCACTTTTA | 378884 |
rs112359355 | snp | A/G | 0.021333 | 0.101051 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123406 | CAGGCTGGAGTGCAG[A/G]GGCACGATCACAGCT | 378884 |
rs112796361 | snp | C/T | | | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120022 | CTCGCTTTTACTTTA[C/T]GTGGGCGAGGCACAG | 378884 |
rs112995480 | snp | C/T | 0.5 | 0 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18122726 | GAGCGCCGCGGGCCT[C/T]TGCACTGCGATCTGC | 378884 |
rs113474848 | snp | A/G | | | missense | NHLRC1 | GRCh38.p7 | 6:18122266 | GTGTGGTGGCAGGTG[A/G]GGGCTCCGGGGGCGC | 378884 |
rs113721893 | snp | G/T | 0.00993419 | 0.0697739 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123532 | TTTTTGTAGAGAGGA[G/T]GTCTCACTATGTTGC | 378884 |
rs114220157 | snp | A/G | 0.0162398 | 0.0886349 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18122937 | CAGCCTGTAAGCGGC[A/G]AAACAAGAACTAGAA | 378884 |
rs114713758 | snp | C/G | 0.0418186 | 0.138422 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18120937 | GTACTTTGGGAGGCC[C/G]AGGAAGGTGGATTGC | 378884 |
rs114726121 | snp | C/T | 0.0182019 | 0.0936463 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123246 | ACAAAAAAAAATCAA[C/T]GAGGTGAATGAGTGT | 378884 |
rs115931931 | snp | A/G | 0.187508 | 0.242071 | NHLRC1 | 6 | allele_origin=G(germline)/A(germline) | 6:18122295 | GCTGGGGGCGGCGCG[A/G]TGGGCGGCCGGGGAC | 378884 |
rs116698874 | snp | C/T | 0.0178098 | 0.0926698 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18124481 | AAACTTCTGACCTTT[C/T]GCGTCAGCCTCCCAA | 378884 |
rs121917875 | snp | C/T | | | stop-gained | NHLRC1 | GRCh38.p7 | 6:18121814 | CATCTGTGCAATCCC[C/T]GAGGGGTGGCAGTGT | 378884 |
rs121917876 | snp | A/T | | | missense | NHLRC1 | GRCh38.p7 | 6:18122014 | CCGGCGATCGCTCCA[A/T]CAAAGTGTTTGATTT | 378884 |
rs137852859 | snp | A/C | | | missense | NHLRC1 | GRCh38.p7 | 6:18121684 | TTGTCGGCCAAGTGG[A/C]TACCTTTGGGCTGAG | 378884 |
rs138049749 | snp | A/C | 0.00119737 | 0.0244387 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120262 | CAGTGAGCAGTGATC[A/C]ATCCACTGCACTCCA | 378884 |
rs138113225 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18122783 | TGTTTCCTGAGGGCC[C/T]GATGGTGGACGTTTG | 378884 |
rs138667242 | snp | C/T | 0.000215301 | 0.0103732 | missense | NHLRC1 | GRCh38.p7 | 6:18122056 | ACCACATGGCAGTCG[C/T]TGGTGATGGTGACAT | 378884 |
rs139029314 | snp | G/T | 0.00268819 | 0.0365632 | missense | NHLRC1 | GRCh38.p7 | 6:18122575 | ATGAGCTCATGCAGC[G/T]CTGGCCCGCTCTCCG | 378884 |
rs139669374 | snp | A/G | 0.00199481 | 0.0315187 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18120946 | GAGGCCGAGGAAGGT[A/G]GATTGCTTGAACTCA | 378884 |
rs140066702 | snp | C/T | 3.32651e-05 | 0.00407817 | synonymous-codon | NHLRC1 | GRCh38.p7 | 6:18121770 | GGCCAGGGGGTGCTC[C/T]AGGACCGCAATGGCC | 378884 |
rs140122442 | snp | A/C | 0.00318978 | 0.0398085 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121087 | AGGTGGAAGGACCAC[A/C]TGAGCGGGGGACGTT | 378884 |
rs140164729 | snp | C/T | 3.32016e-05 | 0.00407427 | missense | NHLRC1 | GRCh38.p7 | 6:18121802 | CGGTGAGCCAAGACA[C/T]TGCCACCCCTCGGGG | 378884 |
rs140189682 | snp | A/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18124182 | ATCTTCAAACAAGGG[A/T]TAGCATAATCTGTGT | 378884 |
rs140850172 | snp | A/T | 0.000478892 | 0.0154666 | missense | NHLRC1 | GRCh38.p7 | 6:18121926 | AGTTACCACAATCCC[A/T]TTCTGAGGGGTGGTC | 378884 |
rs141051185 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123052 | CTTAGCTCATGATGC[C/T]TATGATCTGAACCGG | 378884 |
rs141863990 | snp | A/G | 0.00517822 | 0.0506191 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18120699 | ACTTGTAAAGACAGT[A/G]CACATAGCAACACTA | 378884 |
rs142536037 | snp | C/T | 0.000399281 | 0.0141238 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120370 | TCATCAGCCCTTTGA[C/T]GCTAGTATGTAGTGT | 378884 |
rs142941035 | snp | A/G/T | 0.000991637 | 0.0222449 | synonymous-codon | NHLRC1 | GRCh38.p7 | 6:18121638 | ATCAAAGGTCACAGC[A/G/T]GAGGCAGTTATTTTG | 378884 |
rs143537405 | snp | A/G | 0.000760501 | 0.0194852 | missense | NHLRC1 | GRCh38.p7 | 6:18122185 | TCGTGCACCACCACG[A/G]CACGCCCCGTCTTGG | 378884 |
rs143586419 | snp | A/G | 0.00119737 | 0.0244387 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120023 | TCGCTTTTACTTTAC[A/G]TGGGCGAGGCACAGT | 378884 |
rs143893542 | snp | C/T | 1.85163e-05 | 0.00304266 | synonymous-codon | NHLRC1 | GRCh38.p7 | 6:18122496 | GCGCGGGCGCCGCTG[C/T]TGCCGGTGGCCAAAC | 378884 |
rs144043056 | snp | G/T | 1.65726e-05 | 0.00287855 | missense | NHLRC1 | GRCh38.p7 | 6:18121828 | CGGGGATTGCACAGA[G/T]GAGCTTGCAACCTTT | 378884 |
rs144540809 | in-del | -/CATAAACATGTAA | 0.152667 | 0.230274 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120333 | CAAACGAAAAAACCC[-/CATAAACATGTAA]CATAAACATGTAACA | 378884 |
rs144773651 | snp | C/T | 0.000798403 | 0.0199641 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123139 | ATTTCTTTTGTGTCT[C/T]CTGTCATACTCATAG | 378884 |
rs144861349 | snp | A/G | 0.000153988 | 0.00877328 | synonymous-codon | NHLRC1 | GRCh38.p7 | 6:18121953 | GGTCTCCACACCCCA[A/G]GGTAAGGAGAATTGG | 378884 |
rs144863228 | snp | A/G | 3.29734e-05 | 0.00406025 | missense | NHLRC1 | GRCh38.p7 | 6:18121543 | GTGACCATGGGCTTC[A/G]GTACTGGAAACTCCT | 378884 |
rs145614702 | snp | C/T | 0.0126979 | 0.078662 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18124356 | GTTCAGGCGGTTCTC[C/T]CACCTCAGCCTCCTG | 378884 |
rs146342540 | snp | C/T | 0.0103295 | 0.0711199 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18120533 | TGTTTTTCTTATTCA[C/T]GTAACTCAGGATCAA | 378884 |
rs146420615 | snp | A/G | 3.30967e-05 | 0.00406783 | synonymous-codon | NHLRC1 | GRCh38.p7 | 6:18121878 | TTCCGCGAAGTCGAC[A/G]TCCAGGAGGTGCAGG | 378884 |
rs146636139 | snp | C/T | 0.000350971 | 0.0132424 | missense | NHLRC1 | GRCh38.p7 | 6:18122561 | TCTCCGCCTCGCGCA[C/T]GAGCTCATGCAGCGC | 378884 |
rs147302259 | snp | C/T | 0.0138799 | 0.0821421 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18124447 | GATGAGGTTTCACCA[C/T]GTTGGCCAGGCTGGT | 378884 |
rs147528518 | snp | A/T | 0.0146672 | 0.084371 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121075 | CTTGGGAGGCTGAGG[A/T]GGAAGGACCACCTGA | 378884 |
rs147547272 | snp | G/T | 0.0023933 | 0.0345097 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123808 | ACAAAAATATGTTAT[G/T]TTTATTGTCTTTTTT | 378884 |
rs147601747 | snp | G/T | 0.000399281 | 0.0141238 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121141 | TGCTTCTGCACTCCA[G/T]CCTGGGTGACAGAGC | 378884 |
rs148035405 | snp | A/C/G | 0.000100948 | 0.00710386 | missense | NHLRC1 | GRCh38.p7 | 6:18122189 | GCACCACCACGACAC[A/C/G]CCCCGTCTTGGGACA | 378884 |
rs148553723 | snp | C/T | 0.000445703 | 0.0149216 | synonymous-codon | NHLRC1 | GRCh38.p7 | 6:18121617 | AACAATCACATTTCC[C/T]TGGTGATCAAAGGTC | 378884 |
rs148907696 | snp | A/G | 0.000249242 | 0.0111606 | synonymous-codon | NHLRC1 | GRCh38.p7 | 6:18122094 | GTACCTAATGTCTTG[A/G]GCAGCGTCCCCCTTC | 378884 |
rs149060790 | snp | G/T | 0.00517822 | 0.0506191 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121242 | ATTTCCTTGCACAGA[G/T]TATGCATTCAATAAA | 378884 |
rs149590375 | snp | A/C | 0.0162398 | 0.0886349 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123189 | ATACATACTTGTAAA[A/C]TGAATTTGTGCATGA | 378884 |
rs149855550 | snp | A/G | 0.000399281 | 0.0141238 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18120961 | GGATTGCTTGAACTC[A/G]GGAGTTTGAGACCAG | 378884 |
rs150384028 | snp | C/G | 0.0146672 | 0.084371 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18122700 | CGGGGTGGGACGTGC[C/G]CCCTGACGTCGAGCG | 378884 |
rs150615281 | snp | C/G | 0.00279162 | 0.0372561 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18120757 | TTGTCTTATTTAAGC[C/G]CAACTTATTTGGAAT | 378884 |
rs150694038 | in-del | -/C | 0.179105 | 0.239737 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123232 | GAACAACAACAACAA[-/C]AAAAAAAAATCAACG | 378884 |
rs180943813 | snp | A/C | 0.0252325 | 0.109451 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123235 | CAACAACAACAACAA[A/C]AAAAAATCAACGAGG | 378884 |
rs181532766 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18124221 | CATTGTGGTATTATA[A/G]TCTCTCATTTTTCTT | 378884 |
rs182779486 | snp | G/T | 0.000798403 | 0.0199641 | utr-variant-3-prime | NHLRC1 | GRCh38.p7 | 6:18121171 | CTTGACTCTATCTTG[G/T]GGGGGAAGAAATTAC | 378884 |
rs183091326 | snp | A/C | 0.000399281 | 0.0141238 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120351 | TAAACATGTAACAGG[A/C]GCGTCATCAGCCCTT | 378884 |
rs184400310 | snp | C/T | 0.00438332 | 0.0466095 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18122979 | AGCCCGGGTGCCTAG[C/T]AGTGTCTCCAATCCG | 378884 |
rs184430178 | snp | A/G | 0.00795532 | 0.062565 | upstream-variant-2KB | NHLRC1 | GRCh38.p7 | 6:18123227 | TTATAGAACAACAAC[A/G]ACAACAAAAAAAAAT | 378884 |
rs185597183 | snp | A/T | 0.0023933 | 0.0345097 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120452 | AAGTGGTATTTTCTG[A/T]GTTTGTATAGTGGAG | 378884 |
rs186076403 | snp | C/T | 0.000399281 | 0.0141238 | downstream-variant-500B | NHLRC1 | GRCh38.p7 | 6:18120210 | TACTCAGGATGCTGA[C/T]GCAGGAGGATCGCTT | 378884 |