iUUCD 2.0 - integrated annotations for ubiquitin and ubiquitin-like conjugation database

SNP - dbSNP
dbSNP	Type	Alleles	Het	Se(het)	Fxn-class	Gene Name	Assembly	Chr-pos	Sequence	Entrez Gene
rs751032	snp	C/T	0.205417	0.245993	upstream-variant-2KB	AIRE	GRCh38.p7	21:44285777	ACAGGGAAGTGTCCC[C/T]GCGGGAGGCCCTGGC	326
rs760426	snp	A/G	0.318656	0.240388	intron-variant	AIRE	GRCh38.p7	21:44295931	ATTCCACAGGGTTCA[A/G]TGTAATATGGTCTCC	326
rs760427	snp	A/G	0.266	0.249487	intron-variant	AIRE	GRCh38.p7	21:44296108	GTGGGACTCCTTGCT[A/G]GTTCCCTGAGCTCCC	326
rs878080	snp	A/T	0.417359	0.185718	intron-variant	AIRE	GRCh38.p7	21:44288138	CCAGCACACGCACAC[A/T]TGGGTGCACACACGA	326
rs878081	snp	C/T	0.329464	0.237035	AIRE	21	allele_origin=T(germline)/C(germline)	21:44288394	TGTGGCCATGTCCTC[C/T]GGGGACGTCCCGGGA	326
rs933150	snp	A/G	0.370162	0.219229	intron-variant	AIRE	GRCh38.p7	21:44292705	TCTGCTGCTGTGAGG[A/G]TAGTAGGTCTACTGT	326
rs941405	snp	C/G	0.482683	0.0914256	intron-variant	AIRE	GRCh38.p7	21:44290527	GGCCCTGGCACTTAG[C/G]AGTGACAGGAGCCAG	326
rs1003853	snp	C/T	0.297636	0.24542	intron-variant	AIRE	GRCh38.p7	21:44288965	TGGTGGCAGACCCAC[C/T]GTGCCATCGGGGCAT	326
rs1003854	snp	C/T	0.318656	0.240388	intron-variant	AIRE	GRCh38.p7	21:44290224	TTAATAGACAGTATT[C/T]TTTTCCTGATAATAC	326
rs1055311	snp	C/T	0.345661	0.230993	AIRE	21	allele_origin=T(germline)/C(germline)	21:44289685	GTGCATCCAGGTTGG[C/T]GGGGAGTTCTACACT	326
rs1078480	snp	C/T	0.496483	0.0417852	intron-variant	AIRE	GRCh38.p7	21:44291319	CTGACTCAGAACCCC[C/T]TTCCATCTTGGATGG	326
rs1133779	snp	C/T	0.49697	0.0388079	AIRE	21	allele_origin=T(germline)/C(germline)	21:44297667	GCAGCACACCTTCGA[C/T]GGCATCCTGCAGTGG	326
rs1800520	snp	C/G	0.266001	0.249495	AIRE	21	allele_origin=G(germline)/C(germline)	21:44290023	GGGCCAGCAGGGCAG[C/G]GTTCCCGCCCCTCTG	326
rs1800521	snp	C/T	0.470229	0.118319	AIRE	21	allele_origin=T(germline)/C(germline)	21:44293094	CAAGCACCTGCCGGC[C/T]CCGCCTTCTGCAGCC	326
rs1800523	snp	G/T			intron-variant	AIRE	GRCh38.p7	21:44288475	TAGACGCTGTGGCGG[G/T]GAGATGGGGCTGATG	326
rs1800524	snp	A/C			intron-variant	AIRE	GRCh38.p7	21:44291261	CCCGGTTCACGGCCG[A/C]CTCCACCCACTGACC	326
rs1800525	snp	A/G	0.229329	0.249144	AIRE	21	allele_origin=G(germline)/A(germline)	21:44292407	GGAGACCCCGGTATG[A/G]CCACGCCCCCTCCTA	326
rs1800526	snp	C/G	0.403043	0.197681	intron-variant	AIRE	GRCh38.p7	21:44294373	CTGCTCCCCCCCAGG[C/G]CTGGCAGCCCCTCAT	326
rs2072697	snp	C/T	0	0	intron-variant	AIRE	GRCh38.p7	21:44288758	GCCATGGGGTTGCAT[C/T]CTTAGAAAGTTCTGC	326
rs2073609	snp	C/T	0.302936	0.244331	intron-variant	AIRE	GRCh38.p7	21:44288093	ATGCCTTCCTATCCA[C/T]TGTGCCAGCTCTGCT	326
rs2073610	snp	C/G	0.245916	0.249967	intron-variant	AIRE	GRCh38.p7	21:44290645	CTGGCTGTCTGGGGG[C/G]ATTCTGGAGGAAGTG	326
rs2073611	snp	A/G	0.102758	0.202039	intron-variant	AIRE	GRCh38.p7	21:44290798	CCACTGCCCTGTGAG[A/G]AAGGGTTCATGTGGT	326
rs2073613	snp	A/C/G	0.00159617	0.0282053	intron-variant	AIRE	GRCh38.p7	21:44291320	CATCCAAGATGGAAA[A/C/G]GGGTTCTGAGTCAGG	326
rs2075875	snp	C/T	0.387453	0.208822	intron-variant	AIRE	GRCh38.p7	21:44289258	GGGGTACCCCTGTGC[C/T]CCTTGTTCCTGGGCT	326
rs2075876	snp	A/G	0.387263	0.208947	intron-variant	AIRE	GRCh38.p7	21:44289270	tgctccttgttcctg[A/G]gctcaggacccaccg	326
rs2075877	snp	A/G	0.199564	0.24486	intron-variant	AIRE	GRCh38.p7	21:44290169	TCAGGGATGAGCACC[A/G]GGGCCTGAGCCCCTA	326
rs2075878	snp	C/T	0.498481	0.027514	intron-variant	AIRE	GRCh38.p7	21:44296649	CCCCCCTAGCCCCCT[C/T]GCAGGAGCCCCCCCC	326
rs2256817	snp	A/G	0.498982	0.0225409	intron-variant	AIRE	GRCh38.p7	21:44295503	GTCAGGAGCCCAGCC[A/G]GGCATATACGCAGAT	326
rs2516560	snp	C/T	0.297382	0.245469	intron-variant	AIRE	GRCh38.p7	21:44289456	GGTGGACGTGAACTT[C/T]GGGGGACGCTGTTGA	326
rs2741985	snp	C/T	0.496778	0.0400063	intron-variant	AIRE	GRCh38.p7	21:44291984	TAACAGGTGGGTCAG[C/T]TTAGGGAGGCCCCCG	326
rs2776377	snp	A/G	0.469642	0.119404	upstream-variant-2KB	AIRE	GRCh38.p7	21:44284761	CTCGTTCTCTGGCTC[A/G]GTGGGAACACTCGTG	326
rs2847225	snp	C/G			intron-variant	AIRE	GRCh38.p7	21:44293330	AGCGTGGGGGGCTGC[C/G]GGGGGAAGGGGACGC	326
rs2847226	snp	A/C			intron-variant	AIRE	GRCh38.p7	21:44294241	ACCCAAACCCACCCA[A/C]ACCCACCACTCCCAC	326
rs2847227	snp	C/T	0.26518	0.249539	downstream-variant-500B, upstream-variant-2KB	AIRE, PFKL	GRCh38.p7	21:44298509	AGCACATGGATGGAC[C/T]GCATTGTGTTCATCT	326
rs2981609	snp	A/C			intron-variant	AIRE	GRCh38.p7	21:44294294	ttcctcaccccccac[A/C]ccccccccccccact	326
rs3016736	snp	A/T			intron-variant	AIRE	GRCh38.p7	21:44294268	CCACTCTCCACCCAC[A/T]CCCACACCCCTTCCT	326
rs3016737	snp	A/C			intron-variant	AIRE	GRCh38.p7	21:44294274	TCCACCCACACCCAC[A/C]CCCCTTCCTCACACC	326
rs3016738	snp	A/C			intron-variant	AIRE	GRCh38.p7	21:44294287	acaccccttcctcac[A/C]ccccacacccccatc	326
rs3214074	in-del	-/A	0.0965445	0.197361	AIRE	21	allele_origin=A(germline)/(germline)	21:44287633	CCCTTCTCCCTGGCC[-/A]GGGGCAAGGGGTCAG	326
rs3746964	snp	C/T	0.204785	0.245877	AIRE	21	allele_origin=T(germline)/C(germline)	21:44286105	GCTGCACGCGCTGGC[C/T]GACCACGACGTGGTC	326
rs3746965	snp	A/G	0.460252	0.135255	intron-variant	AIRE	GRCh38.p7	21:44297529	GTGCCATGGGGCCTC[A/G]GGCCTCAGTTTCCCC	326
rs3746966	snp	A/G/T	0.00195197	0.0311835	intron-variant	AIRE	GRCh38.p7	21:44297614	TTCTGTGGCTGCGGC[A/G/T]GGGGCGCACCTGGAG	326
rs3761388	snp	C/G			upstream-variant-2KB	AIRE	GRCh38.p7	21:44284886	ACTGAGGCCACCCCC[C/G]CTCCAGGCCATGCCT	326
rs3761389	snp	A/G	0.392696	0.205275	upstream-variant-2KB	AIRE	GRCh38.p7	21:44285055	TTCCCAGATGCCCCC[A/G]GAAGCTCCTGTCCAG	326
rs3761390	snp	C/G/T	0.00956916	0.0685055	upstream-variant-2KB	AIRE	GRCh38.p7	21:44285356	CCCAGGCTGCCGTAC[C/G/T]GTCTCCTGCATCAGA	326
rs3761391	snp	A/G			upstream-variant-2KB	AIRE	GRCh38.p7	21:44285357	CCAGGCTGCCGTACC[A/G]TCTCCTGCATCAGAC	326
rs3788113	snp	A/G	0.452103	0.147154	intron-variant	AIRE	GRCh38.p7	21:44295737	GTGGCCCCAGACCCC[A/G]TCCTGAGCAGCTCTC	326
rs5844181	in-del	-/C	0	0	intron-variant	AIRE	GRCh38.p7	21:44292475	TCCTAGGCTGGGCCA[-/C]CCCCTCCTGTCCGTC	326
rs7281600	snp	A/C/G	0.00995342	0.0699012	AIRE	21	allele_origin=G(germline)/A(germline)	21:44294404	CCTCTGCTGCAGGAC[A/C/G]GGCCTGCGCTGCAGA	326
rs8127877	snp	C/T	0.0103295	0.0711199	intron-variant	AIRE	GRCh38.p7	21:44291544	CCCACCCCCAAGCCC[C/T]ACCCCAGAGTCCCAC	326
rs8128448	snp	A/C	0.444444	0.157135	intron-variant	AIRE	GRCh38.p7	21:44291577	CAGACAGGGCTGGGG[A/C]GCACAGAGGCCACAG	326
rs9974092	snp	A/G	0.17654	0.238964	intron-variant	AIRE	GRCh38.p7	21:44297364	CCATGAACTGCCATG[A/G]GGATGTGCCCTGGGC	326
rs9974362	snp	C/T	0.226779	0.248919	intron-variant	AIRE	GRCh38.p7	21:44289139	ACAAACTGGGAGGCT[C/T]GAAATGACAGAAATG	326
rs9978641	snp	A/C	0.0267878	0.112589	utr-variant-5-prime	AIRE	GRCh38.p7	21:44285887	GACCGGGGAGACGGG[A/C]GGGCGCACAGCCGGC	326
rs9982393	snp	C/T	0.0429648	0.14013	intron-variant	AIRE	GRCh38.p7	21:44295297	TACTCCCCAGGAGGG[C/T]GACAGCCTACCCCAG	326
rs9983695	snp	C/T	0.447938	0.152711	intron-variant	AIRE	GRCh38.p7	21:44291925	TCCTTGCCGTCTCTT[C/T]CTGCCCTTGATCACC	326
rs11454989	in-del	-/C			intron-variant	AIRE	GRCh38.p7	21:44289278	TTCCTGGGCTCAGGA[-/C]CCCACCGCTCCAGCC	326
rs11908988	snp	A/G	0.0460142	0.144533	intron-variant	AIRE	GRCh38.p7	21:44293454	AGCCCTCCCCTCCCT[A/G]CCTCAATTCCCTTCC	326
rs11910214	snp	C/T	0.00530819	0.0512437	missense	AIRE	GRCh38.p7	21:44287550	AGCCCCCCAAGAAGC[C/T]GGAGAGCAGCGCAGA	326
rs11910369	snp	C/T	0.0150606	0.0854603	intron-variant	AIRE	GRCh38.p7	21:44295239	TCCCAGCTGTGCCTC[C/T]GCCCCGTATACACCG	326
rs11911657	snp	A/G	0.00318978	0.0398085	intron-variant	AIRE	GRCh38.p7	21:44293313	CCTGGGGCTGTGGGG[A/G]GAGCGTGGGGGGCTG	326
rs12627511	snp	A/C	0.375	0.216506	intron-variant	AIRE	GRCh38.p7	21:44292462	TGGCCACGCCCCCTC[A/C]TAGGCTGGGCCACCC	326
rs28398244	snp	C/T	0.0437281	0.141251	intron-variant	AIRE	GRCh38.p7	21:44296316	GCGGCCCCTAGGCCC[C/T]GCGGCCTCTGTACCC	326
rs28408186	snp	A/G	0.220246	0.248223	intron-variant	AIRE	GRCh38.p7	21:44296252	GTGCCCCCACCCCCA[A/G]TGGAGCTGGGTGTAA	326
rs34219046	snp	G/T	0.00224399	0.033421	AIRE	21	allele_origin=G(germline)/T(germline)	21:44288354	ACTGAAGCTGACATG[G/T]TCTGAATCCCTGGGA	326
rs34222038	in-del	-/CTGT			intron-variant	AIRE	GRCh38.p7	21:44296947	TTTTAAGGGCTCTGT[-/CTGT]TTTTGCCAAGAGGAT	326
rs34332800	in-del	-/G			intron-variant	AIRE	GRCh38.p7	21:44297109	CTGCAGAGCCCCAGG[-/G]CCTGAGAGTGGGCCA	326
rs34397615	snp	A/G	0.00589044	0.0539493	AIRE	21	allele_origin=G(germline)/A(germline)	21:44289759	CGAACCAGAGGCTTC[A/G]GGCCACTGCTGCTGC	326
rs34406174	in-del	-/CCC			intron-variant	AIRE	GRCh38.p7	21:44286371	TGGCCTCCAGGTTCC[-/CCC]AGCCCCACCCTCAAC	326
rs34586585	multinucleotide-polymorphism	CT/TA			intron-variant	AIRE	GRCh38.p7	21:44296676	CCCCGGCCCCTCCCC[CT/TA]GCGGGAGCCCAGTGC	326
rs34595068	in-del	-/T			intron-variant	AIRE	GRCh38.p7	21:44293254	TTCACCTGAAACAGG[-/T]AGGAGAGGGAGGCCA	326
rs34989190	in-del	-/A			frameshift-variant	AIRE	GRCh38.p7	21:44293128	TGCCAGGGCTGGACT[-/A]CCTCGGCCCTGCACC	326
rs35090245	in-del	-/C			intron-variant	AIRE	GRCh38.p7	21:44293224	CAAGGAGCCCAGGAC[-/C]TACGGGGCGGATGAA	326
rs35110251	snp	C/G/T			upstream-variant-2KB	AIRE	GRCh38.p7	21:44285688	CCAGCCCCCAAGGCA[C/G/T]CTGCCCTGGTGGGTG	326
rs35263643	in-del	-/T			downstream-variant-500B, upstream-variant-2KB	AIRE, PFKL	GRCh38.p7	21:44298400	TGTCCTTTTGTGTCT[-/T]GTCTTATTTTACTCA	326
rs35271728	in-del	-/A			intron-variant	AIRE	GRCh38.p7	21:44291448	GAGGGCAGCAAAGCA[-/A]GAACAGAGGCCCAGG	326
rs35695517	in-del	-/C			intron-variant	AIRE	GRCh38.p7	21:44287684	CTCTGAGACCCTGTC[-/C]TAGGGGCTGGGGACG	326
rs35732744	in-del	-/G			intron-variant	AIRE	GRCh38.p7	21:44291609	GCTGTGCCCCCCAGG[-/G]CAGGTGGGAGTTTGT	326
rs35915793	snp	A/C			intron-variant	AIRE	GRCh38.p7	21:44296672	CCCCCCCCGGCCCCT[A/C]CCCCTGCGGGAGCCC	326
rs36218769	snp	G/T	0.000399281	0.0141238	upstream-variant-2KB	AIRE	GRCh38.p7	21:44284288	ACAGGCTGGCTCCTG[G/T]GTGGAATGTCCTGGG	326
rs36218770	snp	A/C/G	0.00119737	0.0244387	upstream-variant-2KB	AIRE	GRCh38.p7	21:44284262	CTGGGAGCCTTGAGC[A/C/G]GGGAGCAGGGCCCTC	326
rs36218771	snp	G/T	0.0644444	0.167538	upstream-variant-2KB	AIRE	GRCh38.p7	21:44284190	CCTTCCGAAGACCCC[G/T]AGAGGGAAGCCCCCT	326
rs36218772	snp	A/G	0.00835141	0.0640778	upstream-variant-2KB	AIRE	GRCh38.p7	21:44284101	GCCGGGCTGCTGCTC[A/G]CTGGGTTTCCTGCCC	326
rs36218773	snp	A/G	0.0240643	0.107019	upstream-variant-2KB	AIRE	GRCh38.p7	21:44285170	GTGCTTTAGAAGGAA[A/G]GCGGCCAGCCCCACA	326
rs36219105	snp	C/T	0.0209421	0.100162	upstream-variant-2KB	AIRE	GRCh38.p7	21:44284969	AGTGGGGACAGTGCC[C/T]CCAGTAAAACAAGAC	326
rs36219106	snp	C/G			upstream-variant-2KB	AIRE	GRCh38.p7	21:44284885	GGCATGGCCTGGAGG[C/G]GGGGTGGCCTCAGTG	326
rs36219107	snp	C/G	0.0146672	0.084371	upstream-variant-2KB	AIRE	GRCh38.p7	21:44283838	GGGAACCAGCGCACA[C/G]AGCTTTGGGATGACC	326
rs41276642	snp	C/T			missense	AIRE	GRCh38.p7	21:44287098	CTCGAGCTGCCGCGC[C/T]AGCAGCCCTGACTCC	326
rs41277544	snp	A/G	0.0793984	0.182743	intron-variant	AIRE	GRCh38.p7	21:44288314	AACAGTCTTCCCCAC[A/G]GGTGACCCCAATGGG	326
rs41277546	snp	C/T	0.0258108	0.110631	AIRE	21	allele_origin=T(germline)/C(germline)	21:44288472	AGGTAGACGCTGTGG[C/T]GGGGAGATGGGGCTG	326
rs41277548	snp	C/T	0.114387	0.210022	intron-variant	AIRE	GRCh38.p7	21:44289512	TCCCCGGGCCCCAGA[C/T]TCGACTGGGGTGGGG	326
rs41277550	snp	C/G/T	0.00140893	0.026511	synonymous-codon	AIRE	GRCh38.p7	21:44289802	CCAGGGCGCTGCCCC[C/G/T]GTAAGCACCTGACCT	326
rs41277552	snp	A/G	0.0260105	0.111035	intron-variant	AIRE	GRCh38.p7	21:44296328	CCCTGCGGCCTCTGT[A/G]CCCCCACCAGGGCTG	326
rs41296229	snp	C/T	0.124144	0.21601	intron-variant	AIRE	GRCh38.p7	21:44294637	CAGACGCACTGACCA[C/T]GTGCTCATTATCTGT	326
rs41307215	snp	A/C			intron-variant	AIRE	GRCh38.p7	21:44294319	CCCACTCACCACCCA[A/C]GCCCACACCCCACAC	326
rs55752112	snp	C/T	0.00279162	0.0372561	intron-variant	AIRE	GRCh38.p7	21:44293600	GGTGCTTGGGTCGCC[C/T]CTGCCTCCTGGGGAT	326
rs55791826	snp	A/C	0.0543475	0.155628	intron-variant	AIRE	GRCh38.p7	21:44286320	TTGGTCCCCTTCCCC[A/C]AGCCGTCCCCACACC	326
rs55840791	snp	C/T	3.5307e-05	0.00420146	missense	AIRE	GRCh38.p7	21:44293888	TGGCGCTGCCACTTC[C/T]CAGCCGGCACCTCCC	326
rs55861465	snp	C/G	0.00597247	0.0543191	intron-variant	AIRE	GRCh38.p7	21:44289884	TCTGGGGGAGTGGCT[C/G]TGCTGGGGGCTGGGG	326
rs55928872	snp	A/G	0.0142736	0.0832652	intron-variant	AIRE	GRCh38.p7	21:44293438	TCCCAGCACACGTGG[A/G]AGCCCTCCCCTCCCT	326

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