SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs13087 | snp | C/T | 0.483567 | 0.0891419 | synonymous-codon, nc-transcript-variant | ASPSCR1 | GRCh38.p7 | 17:82016855 | CCCATCTGCGGCCGA[C/T]GTGCTGGTGGCCAGG | 79058 |
rs2277707 | snp | G/T | 0.00835141 | 0.0640778 | intron-variant, upstream-variant-2KB | ASPSCR1, LOC105371939 | GRCh38.p7 | 17:81978925 | AGATGCCCGTGTTGC[G/T]GTACTGCAGGGGAAC | 79058 |
rs2277708 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81983465 | CGTGGATGGCGGGGC[A/G]TGGATGGTGGGACGG | 79058 |
rs4075239 | snp | C/G | 0.474544 | 0.10991 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82000266 | CACTACTCTGGGCTG[C/G]GAGCCCCATGCTCCA | 79058 |
rs4461144 | snp | A/G | 0.192401 | 0.243274 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82005321 | GGGGACCACTGCCCC[A/G]CAGGCCTCCGAGACC | 79058 |
rs4616350 | snp | C/T | 0 | 0 | intron-variant, downstream-variant-500B | ASPSCR1 | GRCh38.p7 | 17:82009585 | TGCCTCAGTCGCCCC[C/T]ACATCCTGTCTGCAG | 79058 |
rs4796860 | snp | C/T | 0.00941946 | 0.067978 | synonymous-codon, nc-transcript-variant | ASPSCR1 | GRCh38.p7 | 17:81985599 | TGCTCACCTGATCTG[C/T]GGAAAATGGCTGAGA | 79058 |
rs4796863 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81982258 | CAATGCGCTGGGCGC[A/G]GTGGCTCATGCCTGT | 79058 |
rs4969475 | snp | C/G | 0.498813 | 0.0243321 | utr-variant-3-prime | ASPSCR1 | GRCh38.p7 | 17:82017959 | CCTGCCCTGGTGCCC[C/G]AAGACAACTTTGAGG | 79058 |
rs4995642 | snp | A/G | 0.453209 | 0.145623 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82013189 | CTCGGGGGCTGAGAG[A/G]GGACTGTCTCACCCC | 79058 |
rs6502045 | snp | C/T | 0.499965 | 0.00419314 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82014548 | TCCCTGCCGAGGCAC[C/T]GTGGTGCCGCCTTCC | 79058 |
rs6502046 | snp | A/C | 0 | 0 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82015652 | GCCTCTGGGCAGTGT[A/C]CCCTGGGCTTCTGTG | 79058 |
rs7207516 | snp | A/G | 0.485118 | 0.0849685 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81987207 | GAGATGACGGAGCCT[A/G]AGAGCAAAGCGAAGC | 79058 |
rs7209747 | snp | C/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81997104 | GGGATGAGGCCGTGT[C/G]CGCTCCGGGATGAGG | 79058 |
rs7209749 | snp | C/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81997105 | GGATGAGGCCGTGTC[C/G]GCTCCGGGATGAGGC | 79058 |
rs7213474 | snp | C/T | 0.486855 | 0.0799975 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82004842 | AGGCGGAAACCAGGC[C/T]GGGCTCAGCATGGCG | 79058 |
rs7213919 | snp | G/T | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81997126 | GGGATGAGGCCGTGT[G/T]GGCTCCGGGATGAGG | 79058 |
rs7214612 | snp | A/G | 0.253264 | 0.249979 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81997568 | tctcggctcactgca[A/G]cctctgccacccaag | 79058 |
rs7218409 | snp | A/G | 0.275732 | 0.248672 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82006123 | CCAAGCACGCATGTG[A/G]ACCCGCAAGGACACA | 79058 |
rs7221618 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82000656 | ATAAAGAGTCAGAAG[A/G]AAGAGACAGGATAAA | 79058 |
rs7222219 | snp | C/T | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81997077 | tactgagacggTGGC[C/T]GTGTCTGCTCCGGGA | 79058 |
rs7222223 | snp | C/T | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81997083 | gacggtggctgtgtC[C/T]GCTCCGGGATGAGGC | 79058 |
rs7222954 | snp | G/T | 0.18325 | 0.240924 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81997488 | ttttttttttctggg[G/T]ttttttttttttttt | 79058 |
rs7223629 | snp | A/G | 0.0498117 | 0.149749 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81995895 | GGCCAGAGAGGGCAC[A/G]TGGCCTGTGGTCCTG | 79058 |
rs7224889 | snp | A/G | 0.00358779 | 0.0422022 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82013558 | GGCAGGCAAGCAGGC[A/G]GCGGGCGCGGAAGCA | 79058 |
rs7405640 | snp | C/T | 0.483053 | 0.0904792 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81991355 | GAGTGCATCTCAGCC[C/T]GTTCCTCCTTCTGTA | 79058 |
rs8074498 | snp | A/T | 0.499981 | 0.00306347 | missense, nc-transcript-variant | ASPSCR1 | GRCh38.p7 | 17:81996668 | GTGGGGGACAGAGAC[A/T]GGGGGGCCCTCCTGG | 79058 |
rs9890434 | snp | A/G | 0.153332 | 0.230554 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81988665 | AGTGATTTGTGGCTG[A/G]CTGTTGTTGCTGGTG | 79058 |
rs9895794 | snp | A/C | 0.229429 | 0.249152 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82006598 | AGGACGCCTCACCCC[A/C]GGTTGACGTCATTTT | 79058 |
rs9895872 | snp | C/T | 0.499694 | 0.0123573 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82015025 | CTCAAAGGCCCTTCC[C/T]GGGCCCTGCTCTGGC | 79058 |
rs9896558 | snp | A/C | 0 | 0 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82010547 | AAAAAAAAAAAAAAA[A/C]AAAAACCAGCACATT | 79058 |
rs9901214 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81990752 | ACCCGgaggaggaaa[C/G]ggagtacctttctga | 79058 |
rs9904501 | snp | C/T | 0.197393 | 0.244402 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81986377 | gcagttgcagtgagc[C/T]gagatcgcactgctg | 79058 |
rs9906594 | snp | C/G | 0.450487 | 0.149349 | intron-variant, upstream-variant-2KB | ASPSCR1, LOC105371939 | GRCh38.p7 | 17:81977760 | ccgtccgccccgggc[C/G]ggcggccgcACCTGA | 79058 |
rs9906783 | snp | C/T | 0.24932 | 0.249999 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81995747 | CTTGGGTCCCAGCTG[C/T]GGAGACCAGGCTGGG | 79058 |
rs9912335 | snp | C/T | 0.483563 | 0.0891524 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82001783 | CCCGTCAGCCCTTCC[C/T]GGGCTCCCCCAGGAG | 79058 |
rs9912348 | snp | C/T | 0.49999 | 0.00219646 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82001793 | CTTCCCGGGCTCCCC[C/T]AGGAGCAGCCTCCAG | 79058 |
rs9912517 | snp | A/G | 0.0123036 | 0.0774623 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81988497 | TGGGGCAGCTCTTTC[A/G]AGACACCAGGGACAG | 79058 |
rs9912553 | snp | C/G | 0.439085 | 0.163545 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82001827 | CTGCCCTGCGGATGA[C/G]CCCCCTCACCAAACT | 79058 |
rs9916841 | snp | C/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81984508 | cgtgaacccgggagg[C/G]ggagcttgcagtgag | 79058 |
rs11077964 | snp | G/T | 0.463666 | 0.129795 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82008611 | GCAGGCGTGCATGGA[G/T]TCAGCCTGGCCATGG | 79058 |
rs11539915 | snp | G/T | 0 | 0 | missense, nc-transcript-variant | ASPSCR1 | GRCh38.p7 | 17:81985534 | TTGCAGCTGGACGAT[G/T]GCTCGAGGTTGCAGG | 79058 |
rs11539916 | snp | C/T | 0.000345054 | 0.0131304 | missense, nc-transcript-variant | ASPSCR1 | GRCh38.p7 | 17:81995996 | TCCTCCTGCAGGTGA[C/T]GGGTGAAGCTGCCCT | 79058 |
rs11539917 | snp | C/T | 0.0341531 | 0.126135 | synonymous-codon, nc-transcript-variant | ASPSCR1 | GRCh38.p7 | 17:81983635 | GCTGGAGATGGTGCC[C/T]GCTTCCCGGAGCCGT | 79058 |
rs11655288 | snp | G/T | 0.00470586 | 0.0482782 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81986143 | GATGGCTGGGCACAG[G/T]GGCTGGGCACAGTGG | 79058 |
rs11658043 | snp | A/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81986400 | cactgctgcactcca[A/G]cctgggcaacagaac | 79058 |
rs11869686 | snp | A/G | 0.0543475 | 0.155628 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82004134 | AGGAGACCTCTGGGC[A/G]GTGTCCCGGCCTGTG | 79058 |
rs12150186 | snp | C/T | 0.102014 | 0.201495 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82004255 | TGCTGTGAGGCCGCG[C/T]GCCCGCAGGGCTGCC | 79058 |
rs12150441 | snp | A/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82002439 | tctgtgttctttgta[A/G]agaaggggttttgcc | 79058 |
rs12150442 | snp | A/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82002441 | tgtgttctttgtaga[A/G]aaggggttttgccat | 79058 |
rs12937164 | snp | C/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81984950 | acccgcacacacCCG[C/G]ACACACCCcacacac | 79058 |
rs12937344 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81986233 | gttcaagactagcct[C/T]ggcaacatagtgaaa | 79058 |
rs12938990 | snp | C/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82009666 | AGGCACAGCTCTGAG[C/G]GGGCCCCCTGTGAGG | 79058 |
rs12939600 | snp | C/T | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82009828 | TGGGGGCGACTGAGG[C/T]ACAGCTCTGAGCAGG | 79058 |
rs12944078 | snp | C/T | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82009675 | TCTGAGCGGGCCCCC[C/T]GTGAGGTCTGTGGAC | 79058 |
rs12944349 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82009748 | TGTGAGGTCTGTGGA[C/T]GGGACGTGGGGGCGA | 79058 |
rs12944359 | snp | C/T | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82009770 | TGGGGGCGACTGAGG[C/T]ACAGCTCTGAGGGGG | 79058 |
rs12946118 | snp | C/G | 0.434232 | 0.168992 | intron-variant, downstream-variant-500B | ASPSCR1 | GRCh38.p7 | 17:82009610 | GAGGCACAGCTCTGA[C/G]GGGGCCCCCCGTGAG | 79058 |
rs12946643 | snp | A/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82009749 | GTGAGGTCTGTGGAT[A/G]GGACGTGGGGGCGAC | 79058 |
rs12946652 | snp | G/T | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82009758 | GTGGATGGGACGTGG[G/T]GGCGACTGAGGTACA | 79058 |
rs12946671 | snp | C/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82009782 | AGGTACAGCTCTGAG[C/G]GGGCCCCCTGTGAGG | 79058 |
rs12952898 | snp | A/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82009691 | GTGAGGTCTGTGGAC[A/G]GGACGTGGTGGCGAC | 79058 |
rs34085048 | snp | A/G | 0.0420396 | 0.138753 | missense, nc-transcript-variant | ASPSCR1 | GRCh38.p7 | 17:82009055 | GTGGACCGGGAGCCC[A/G]TGGACCGGGAGCCGG | 79058 |
rs34231047 | snp | C/T | 0.00557542 | 0.0525036 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81998949 | TGACCCTCTCCCTCA[C/T]GCCTCCCCCCAACCG | 79058 |
rs34248146 | in-del | -/A | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82006262 | GCATGCTTGGGGGGC[-/A]GTGTGCGTGTCCTTG | 79058 |
rs34276642 | in-del | -/CG | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82009695 | GGTCTGTGGACAGGA[-/CG]TGGTGGCGACTGAGG | 79058 |
rs34286048 | in-del | -/T | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81998623 | GGTGTTGAACCGTTT[-/T]CAGTGTTTTCAGCAT | 79058 |
rs34397124 | in-del | -/A | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82005564 | CCACACACCTGGGGG[-/A]CCCCACCAAGGCTGA | 79058 |
rs34430138 | in-del | -/A | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81994943 | TTCCAACTGGAAAAT[-/A]CTGCTGTCCCGCAGC | 79058 |
rs34477876 | in-del | -/C | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82010170 | CAGGTGATCTGCCCG[-/C]CTCGGCCTCCCAAAG | 79058 |
rs34493879 | in-del | -/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82002084 | CAATTACGGCTCACA[-/G]GCAGTCATGACCTTC | 79058 |
rs34501574 | in-del | -/T | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81984370 | TCACCTGAGGTCAGG[-/T]AGTTTGGGACCAGCC | 79058 |
rs34550798 | in-del | -/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82005660 | CTTGGGAGCTTTCCA[-/G]GTGGGGATGTTTGTA | 79058 |
rs34569308 | in-del | -/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82006211 | CCTTGCATGTGCACA[-/G]GTGTGTGTGTGTGTG | 79058 |
rs34713087 | snp | C/G | 0.029116 | 0.117091 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82005549 | AGGGACACCTGGCGG[C/G]CACACACCTGGGGGA | 79058 |
rs34809841 | in-del | -/C | | | upstream-variant-2KB, intron-variant | ASPSCR1, LOC105371939 | GRCh38.p7 | 17:81977064 | GGACCGTCGCGGCAG[-/C]CCTAGGGCTGCCAGA | 79058 |
rs34821926 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81983888 | TTTGAGCTGGAGTCT[C/T]GCTCTGTCGCCCAGG | 79058 |
rs34996654 | in-del | -/T | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82009700 | GTGGACAGGACGTGG[-/T]GGCGACTGAGGCACA | 79058 |
rs35006864 | snp | A/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81983513 | TGGCAGGGCGTGTCA[A/G]GCTCTGCAGGGCAGC | 79058 |
rs35134723 | in-del | -/C | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81994325 | GCCCCTCCCTCCATG[-/C]TTCGGTGACATCAGG | 79058 |
rs35211881 | in-del | -/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81988951 | GCGGCTCTCACCTGT[-/G]AATCCCAGCACTTTG | 79058 |
rs35252476 | in-del | -/C | | | intron-variant, upstream-variant-2KB | ASPSCR1, LOC105371939 | GRCh38.p7 | 17:81978030 | GTACTCGGCGCCCGG[-/C]CGAGCCCAGCTCGCG | 79058 |
rs35308604 | in-del | -/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82005298 | CATCAGTTGGGCCCT[-/G]GGGGTTTGGTCTCGG | 79058 |
rs35344256 | snp | A/C | 0.430732 | 0.172731 | upstream-variant-2KB, nc-transcript-variant | ASPSCR1, LOC105371939 | GRCh38.p7 | 17:81976318 | TCTTCAAAAACGCCA[A/C]TAAAGAATTAAAACC | 79058 |
rs35432990 | in-del | -/C | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81988527 | CAGGAGGTGGTGGGG[-/C]CCGTTGGTGGTAAAG | 79058 |
rs35470321 | in-del | -/C | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81989396 | AGGTCTGCATGAGGG[-/C]AGGGAGGCTCTCGTG | 79058 |
rs35536513 | in-del | -/A | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81985306 | ATGCACACACGCATG[-/A]CTGGTGCAGCCCTGC | 79058 |
rs35800056 | in-del | -/C | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81995310 | ACTGGCCCGGAGGGG[-/C]CCTGGGGGGCCAGGA | 79058 |
rs35834288 | snp | A/G | 0.493107 | 0.0583 | intron-variant, upstream-variant-2KB | ASPSCR1, LOC105371939 | GRCh38.p7 | 17:81978065 | CGCCGGGAAGAGGGA[A/G]GAGTGGAGCCCTAGA | 79058 |
rs35882908 | snp | G/T | | | upstream-variant-2KB, nc-transcript-variant | ASPSCR1, LOC105371939 | GRCh38.p7 | 17:81975780 | TTTTTTTTTTTTTTT[G/T]TGAGACAGAGTCTTG | 79058 |
rs35890420 | in-del | -/C | | | frameshift-variant, nc-transcript-variant | ASPSCR1 | GRCh38.p7 | 17:81994849 | ACCCCGGCGGGGCCA[-/C]CCCCAGTCTGCGTGT | 79058 |
rs35893455 | in-del | -/G | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81997895 | TGGTGGCGCACTTTC[-/G]GGCTCACTGTAACCT | 79058 |
rs35940283 | in-del | -/A | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82008807 | GGTGCACTGACTGGG[-/A]AGAGGGGGGTCTCCA | 79058 |
rs35945308 | snp | G/T | 0 | 0 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82004764 | CTCTGACTCTGCCCA[G/T]CAAGAGGGGCAGGGT | 79058 |
rs35972820 | in-del | -/T | | | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81988934 | TTTCCAGGCCGGGCA[-/T]TGGCGGCTCTCACCT | 79058 |
rs36093868 | in-del | -/T/TT | 0.5 | 0 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82009915 | ATTTAGAATGAAACC[-/T/TT]TTTTTTTTTTTTTGA | 79058 |
rs41283357 | snp | C/G | 0.304688 | 0.243945 | upstream-variant-2KB, intron-variant | ASPSCR1, LOC105371939 | GRCh38.p7 | 17:81977026 | TGAAACCGGTCTCCC[C/G]CCTTTCCTACCCTCA | 79058 |
rs41283359 | snp | G/T | 0 | 0 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:81997148 | GGGATGAGGCCGTGT[G/T]GGCTCCATGACAAGG | 79058 |
rs55671960 | snp | C/T | 0.18134 | 0.240387 | intron-variant, upstream-variant-2KB | ASPSCR1, LOC105371939 | GRCh38.p7 | 17:81979110 | GGAAGCTGAATGCCC[C/T]TGGCTGACCTGGCCC | 79058 |
rs55690610 | in-del | -/GT | 0.490635 | 0.0677858 | intron-variant | ASPSCR1 | GRCh38.p7 | 17:82006212 | CTTGCATGTGCACAG[-/GT]GTGTGTGTGTGTGTG | 79058 |