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
rs2024	snp	C/T	0.000216046	0.0103912	synonymous-codon, intron-variant	KMT2D	GRCh38.p7	12:49026408	GGGCCTTGTGTTCCA[C/T]GCCATCGGACAGCTG	8085
rs764941	snp	C/G	0.144407	0.226606	KMT2D	12	allele_origin=G(germline)/C(germline)	12:49048707	TGATGACACCATGCA[C/G]AATACCGTGGTTCTC	8085
rs764942	snp	C/G	0	0	KMT2D	12	allele_origin=G(germline)/C(germline)	12:49048659	ATTTGTCTTAATGCA[C/G]GTACCATACAGTGAG	8085
rs833817	snp	C/G	0.0460142	0.144533	intron-variant	KMT2D	GRCh38.p7	12:49027396	CTTTTGGGAGGGTGG[C/G]ATATGGGTGAGGGGA	8085
rs833818	snp	A/G	0.0134118	0.0807838	intron-variant	KMT2D	GRCh38.p7	12:49045876	GCCAGACCAGACGTC[A/G]GACATCATCTAGTCT	8085
rs833819	snp	A/G	0.000930512	0.0215497	missense, nc-transcript-variant	KMT2D	GRCh38.p7	12:49040292	CGCTGGGGGCTGGGG[A/G]GTTCCCAGCAGCCCT	8085
rs833836	snp	C/T	0.0894459	0.191631	intron-variant	KMT2D	GRCh38.p7	12:49057676	GTCCAGCACAGGGAT[C/T]CCAATGCTGATTCCC	8085
rs866746	snp	C/T	0.0479149	0.147179	intron-variant	KMT2D	GRCh38.p7	12:49036361	tcacgccattgcact[C/T]caggctgggcaacag	8085
rs876333	snp	C/T	0.378962	0.21417	intron-variant	KMT2D	GRCh38.p7	12:49029736	TTGAGGCCAGGAGTT[C/T]GAGACCAGCTTGGGC	8085
rs1064209	snp	A/G			synonymous-codon, nc-transcript-variant	KMT2D	GRCh38.p7	12:49052279	GGCATCACGCCTGTC[A/G]CCACCACCTGAGGAA	8085
rs1064210	snp	A/G	0.0548409	0.156246	KMT2D	12	allele_origin=G(germline)/A(germline)	12:49052257	CCTGAGGAATTGCCC[A/G]CATCCCCACTTCCTG	8085
rs1064211	snp	C/G/T	6.65159e-05	0.00576659	synonymous-codon, intron-variant	KMT2D	GRCh38.p7	12:49026420	GTTCCGTGTGGGGGG[C/G/T]CTTGTGTTCCACGCC	8085
rs1368572	snp	C/T	4.97269e-05	0.00498608	KMT2D	12	allele_origin=T(germline)/C(germline)	12:49048667	ACAGACAAATTTGTC[C/T]TAATGCAGGTACCAT	8085
rs1897642	snp	C/T	0.0088104	0.0657843			GRCh38.p7	12:49059515	CAGCTCTGGCACCCC[C/T]TTCTCCAACCTAAAG	8085
rs1897643	snp	A/G	0	0			GRCh38.p7	12:49059712	TCACAGCCGCCCCCC[A/G]CACGGGGGGGCTTAG	8085
rs2241726	snp	C/T	0.470992	0.116887	synonymous-codon, nc-transcript-variant	KMT2D	GRCh38.p7	12:49050762	TCCACTCTCACCCAT[C/T]ATCACAGCTGCGGCC	8085
rs2293446	snp	A/G	0.479984	0.0980171	upstream-variant-2KB, downstream-variant-500B, synonymous-codon, nc-transcript-variant	PRKAG1, KMT2D, LOC105369758	GRCh38.p7	12:49018926	CTCCCCCGGGTCCTC[A/G]CGGACCGCACGGATC	8085
rs2293447	snp	C/T	0.00119737	0.0244387	upstream-variant-2KB, downstream-variant-500B, synonymous-codon, nc-transcript-variant	PRKAG1, KMT2D, LOC105369758	GRCh38.p7	12:49018932	CGGGTCCTCGCGGAC[C/T]GCACGGATCCGGCTG	8085
rs2304275	snp	A/G	0.381308	0.21274	intron-variant	KMT2D	GRCh38.p7	12:49049030	CTGCCAGTCCCTTGC[A/G]TGCTTGCCTACCTGC	8085
rs3177024	snp	A/C			upstream-variant-2KB, utr-variant-3-prime, nc-transcript-variant	PRKAG1, KMT2D, LOC105369758	GRCh38.p7	12:49019004	GTTTGTTTTTAAACG[A/C]CAAATAAAAAAAGAA	8085
rs3741622	snp	C/T	0.434638	0.16855	synonymous-codon, nc-transcript-variant	KMT2D	GRCh38.p7	12:49032195	TGGTTTGGGAGGTTG[C/T]GGCCCTGTATTATTT	8085
rs3741623	snp	A/G	8.08032e-05	0.00635571	synonymous-codon, nc-transcript-variant	KMT2D	GRCh38.p7	12:49037339	AGCCAGGCGTTGCTG[A/G]AGGGCATGAGCTGGT	8085
rs3741624	snp	G/T	0.0145037	0.0839135	missense, nc-transcript-variant	KMT2D	GRCh38.p7	12:49038480	ACCAGCTCCAAACCA[G/T]TTGGCAGGGTAGGAC	8085
rs3741625	snp	C/G/T	0.000118934	0.00771066	KMT2D	12	allele_origin=T(germline)/C(germline)	12:49040600	GCAGCTCTCAGGGGG[C/G/T]GGAGGTTGGGGCCGA	8085
rs3741626	snp	A/G	0.0239714	0.106824	KMT2D	12	allele_origin=G(germline)/A(germline)	12:49040626	GCCGAGGAGTCAATG[A/G]GGGCTGAGCATATGG	8085
rs3782356	snp	C/T	0.00208813	0.0322445	KMT2D	12	allele_origin=T(germline)/C(germline)	12:49026295	CGATAGCAGCAGCGA[C/T]GATTGTTGGTGCGGA	8085
rs3782357	snp	C/T	0.497056	0.0382562	synonymous-codon, nc-transcript-variant	KMT2D	GRCh38.p7	12:49033869	CAGCACAGCTGAGTG[C/T]TGTTGCTGTTGTTGC	8085
rs3782358	snp	C/T	0.000399281	0.0141238	intron-variant	KMT2D	GRCh38.p7	12:49039079	GAAGGATAGAATTAA[C/T]GCAGTGAGGGAGAAA	8085
rs3837452	in-del	-/T			intron-variant	KMT2D	GRCh38.p7	12:49027468	ttttctttttttttt[-/T]gagacacagtcttgc	8085
rs3837453	in-del	-/T	0.415399	0.187465	intron-variant	KMT2D	GRCh38.p7	12:49047594	AGCTAATTTTTGTTA[-/T]TTTTTAGAAGAGACG	8085
rs4760656	snp	A/T	0.21875	0.248039	intron-variant	KMT2D	GRCh38.p7	12:49035712	ATTAGCTGGGCTTGG[A/T]GGTGGGCACCTGTAA	8085
rs4760657	snp	A/G	0.0452528	0.143452	intron-variant	KMT2D	GRCh38.p7	12:49028509	TTTGAAAATATTAAC[A/G]GGCttttgtggtcaa	8085
rs5798089	in-del	-/T	0.487241	0.0788465	intron-variant	KMT2D	GRCh38.p7	12:49048573	AACTGGACCTACTTT[-/T]GGGGATACCCAGCTA	8085
rs7313188	snp	A/C	0.0475351	0.146656	upstream-variant-2KB	KMT2D	GRCh38.p7	12:49062152	CATGCGCCACCGCGC[A/C]CGGTCCCAACAGAAC	8085
rs7488249	snp	A/T	0	0	intron-variant	KMT2D	GRCh38.p7	12:49022892	TGGGAGGTGATATAA[A/T]CCATGACAAGACAGC	8085
rs7975791	snp	C/T	0.02016	0.0983543	upstream-variant-2KB, utr-variant-3-prime, nc-transcript-variant, downstream-variant-500B	PRKAG1, KMT2D, LOC105369758	GRCh38.p7	12:49019703	CAGCAGCCCAGTCTT[C/T]CTACTGTCTGATTTA	8085
rs7977963	snp	A/T	0	0	intron-variant	KMT2D	GRCh38.p7	12:49046020	TGTCCCAAAGCAAGG[A/T]ACCCCTGCTCTGACT	8085
rs10594465	in-del	-/T	0	0	upstream-variant-2KB	KMT2D	GRCh38.p7	12:49062647	TTTTTTTTTTTTTTT[-/T]GAGATGGAGTTTCGC	8085
rs10747559	snp	A/C	0.487117	0.0792603	synonymous-codon, nc-transcript-variant	KMT2D	GRCh38.p7	12:49040291	CAGGGCTGCTGGGAA[A/C]CCCCCAGCCCCCAGC	8085
rs10783301	snp	A/G	0.488666	0.0744214	intron-variant	KMT2D	GRCh38.p7	12:49045593	AGCTTGCAATGTGCC[A/G]AGCTTGTGCCACTGC	8085
rs10875912	snp	C/T	0.467337	0.123551	intron-variant	KMT2D	GRCh38.p7	12:49023161	CCAATTCCCCTACAC[C/T]GAGCCTGTTCTCCCA	8085
rs10875913	snp	C/T	0.489259	0.0724914	intron-variant	KMT2D	GRCh38.p7	12:49025525	GTGTGTAGTATGCTA[C/T]GCCATCTAGGTTTGT	8085
rs10875914	snp	A/G	0.496034	0.0443518	intron-variant	KMT2D	GRCh38.p7	12:49028311	AGCAGCCTTTCCCAA[A/G]CTGCTGTGGGCACTG	8085
rs10875915	snp	C/T	0.481473	0.0944461	intron-variant	KMT2D	GRCh38.p7	12:49036311	TTCACCTATCCCAAT[C/T]GCTTTTTTTTTTTTT	8085
rs11168825	snp	C/T	0	0	intron-variant	KMT2D	GRCh38.p7	12:49022432	GGATCAGGTAGGAGA[C/T]TCAGGCAGTGGGGGC	8085
rs11168826	snp	A/G	0.0611083	0.163768	intron-variant	KMT2D	GRCh38.p7	12:49025585	acaaaatcacctaac[A/G]atgcatttctcagaa	8085
rs11168827	snp	C/G	0.444	0.157683	intron-variant	KMT2D	GRCh38.p7	12:49025894	AGGTTGGGTGAGGCA[C/G]ATGATAGTCTCAGAA	8085
rs11168828	snp	A/G	0.0872229	0.189746	intron-variant	KMT2D	GRCh38.p7	12:49029012	CTCTCCCCCAGCTTC[A/G]GACAACCCAGGTGAA	8085
rs11168829	snp	A/G	0	0	intron-variant	KMT2D	GRCh38.p7	12:49029976	tgaatgcaggaacca[A/G]aattcaaatccagat	8085
rs11168830	snp	A/G	0.171243	0.237271	synonymous-codon, nc-transcript-variant	KMT2D	GRCh38.p7	12:49030751	AGCAGGCTCCGTTAG[A/G]GGCAGCAGGGACAGC	8085
rs11168831	snp	A/G	1.82055e-05	0.00301702	missense, nc-transcript-variant	KMT2D	GRCh38.p7	12:49031482	AGTTGGGATGCCTCA[A/G]GCACCACCTGTCCAT	8085
rs11168832	snp	A/G	0.0341408	0.126114	intron-variant	KMT2D	GRCh38.p7	12:49035840	gctgggattaaaggc[A/G]tgagccacagcacct	8085
rs11168834	snp	G/T	0	0	intron-variant	KMT2D	GRCh38.p7	12:49046202	GACTGGAGGAAATAA[G/T]CTCAGGCAATGCGAG	8085
rs11168835	snp	C/T	0	0	upstream-variant-2KB, intron-variant	KMT2D	GRCh38.p7	12:49056068	TCTCAGGTCATTGCC[C/T]TTAGCAACACCAACT	8085
rs11168836	snp	C/T	0	0	upstream-variant-2KB, intron-variant	KMT2D	GRCh38.p7	12:49056218	CCACTCAGAGGAGTT[C/T]TAAACAGGGCAGGAC	8085
rs11168838	snp	A/T	0.401747	0.198678	upstream-variant-2KB	KMT2D	GRCh38.p7	12:49061223	CCCGAAGAAAACTGG[A/T]CGAGTCCCTAGTCGT	8085
rs11168839	snp	A/G	0.488302	0.0755777			GRCh38.p7	12:49063852	ACGGCCATTTTAATG[A/G]AAGACACTGGGGACA	8085
rs11354036	in-del	-/T	0.476746	0.10529	upstream-variant-2KB	KMT2D	GRCh38.p7	12:49062629	CACCTACTATTTTGG[-/T]TTTTTTTTTTTTTTT	8085
rs11610248	snp	A/C	0	0	intron-variant	KMT2D	GRCh38.p7	12:49047150	gccaccgtgcccagc[A/C]TAGGAGGTGGAACTT	8085
rs11610272	snp	C/G			intron-variant	KMT2D	GRCh38.p7	12:49047154	ccgtgcccagccTAG[C/G]AGGTGGAACTTCTAA	8085
rs11614738	snp	A/G	0.398354	0.201224	intron-variant	KMT2D	GRCh38.p7	12:49030833	TGTCTTGCACAGCTG[A/G]GGGACAGGGTGCCCC	8085
rs12099780	snp	A/G	0.0111196	0.0737302	intron-variant	KMT2D	GRCh38.p7	12:49021935	GGGGAGGCCAGAGAA[A/G]ATATGATCTGAGGTG	8085
rs12230000	snp	C/T	0	0	splice-acceptor-variant	KMT2D	GRCh38.p7	12:49022876	TTCAGGGTATGGGGC[C/T]TGGGAGGTGATATAA	8085
rs12302633	snp	C/G			intron-variant	KMT2D	GRCh38.p7	12:49046914	gcaatggcgcgatct[C/G]ggctcactgcaacct	8085
rs12303646	snp	A/G	0.0718919	0.175435	intron-variant	KMT2D	GRCh38.p7	12:49035616	ccaggctggagtgca[A/G]tggtgcaatttaggc	8085
rs12304391	snp	C/T	0.0236767	0.106197	intron-variant	KMT2D	GRCh38.p7	12:49044564	GGCAAATCAGAACTA[C/T]AGGCCCTTTTAACCT	8085
rs12310024	snp	G/T	0.121022	0.21416	intron-variant	KMT2D	GRCh38.p7	12:49047392	GTGGACCGAATTAGG[G/T]CCCCCAGTTtttcct	8085
rs12315734	snp	C/T	0.0752113	0.178743	upstream-variant-2KB, utr-variant-3-prime, nc-transcript-variant	PRKAG1, KMT2D	GRCh38.p7	12:49020240	AACAGGGGGTGGGAA[C/T]TGCCCAGCCTCTATA	8085
rs12424090	snp	A/G	0	0	splice-donor-variant	KMT2D	GRCh38.p7	12:49031173	CTACTCAGAGTACTC[A/G]CCTCCTTGTTGCTGG	8085
rs12424597	snp	C/G	0	0	upstream-variant-2KB, utr-variant-3-prime, nc-transcript-variant	PRKAG1, KMT2D	GRCh38.p7	12:49019936	CCACCAAGCCCACCC[C/G]TACACTCCAGACATC	8085
rs12425270	snp	C/G	0	0	missense, intron-variant	KMT2D	GRCh38.p7	12:49027141	GGGACGGGTGGCTCA[C/G]CCAAGGGTTCGGTGG	8085
rs12580349	snp	A/G	0.422158	0.181278	intron-variant	KMT2D	GRCh38.p7	12:49042941	TGACACCACAGGTCT[A/G]CAAATGATCATGGCC	8085
rs12582095	snp	G/T	0	0	utr-variant-5-prime, nc-transcript-variant	KMT2D	GRCh38.p7	12:49060000	ctcgggcggAACGTC[G/T]AGGCTCTCCAGATGG	8085
rs17123516	snp	C/G	0.046775	0.145601	intron-variant	KMT2D	GRCh38.p7	12:49035497	CATCATCCTAAAATC[C/G]CACACTTTGTATATT	8085
rs33963995	in-del	-/T	0.436265	0.166749	intron-variant	KMT2D	GRCh38.p7	12:49029678	TTTTTGTTTTTTTTG[-/T]TTTTTTTTTTTTTTT	8085
rs34412400	in-del	-/T			intron-variant	KMT2D	GRCh38.p7	12:49036505	TTTTTTTTTTTTTTT[-/T]GAGATGGAGTTTCGC	8085
rs34436857	snp	A/G	0.424193	0.179323	intron-variant	KMT2D	GRCh38.p7	12:49045738	CCCGGGAAGCTGGAG[A/G]CCTTGGTTCTAGGCA	8085
rs34546217	in-del	-/C	0.436682	0.166282	intron-variant	KMT2D	GRCh38.p7	12:49022264	ACTAAATCCCTCCTT[-/C]CTCGTCATCTCTCAC	8085
rs34613877	in-del	-/G			frameshift-variant, nc-transcript-variant	KMT2D	GRCh38.p7	12:49030658	CGCCCCACTTCCAAA[-/G]GCCCCCCTCAGCTGG	8085
rs34678268	in-del	-/G			upstream-variant-2KB, intron-variant	KMT2D	GRCh38.p7	12:49057055	CAACCACATTCGAAA[-/G]GGAAAGCAGGGTGGG	8085
rs34758121	in-del	-/T			frameshift-variant, nc-transcript-variant	KMT2D	GRCh38.p7	12:49022797	TGCACAAACTGCTTG[-/T]CTGTAGGGGGTGTTG	8085
rs34778330	in-del	-/G			upstream-variant-2KB, intron-variant	KMT2D	GRCh38.p7	12:49057080	GTGGGTCATCTGGCC[-/G]GGCTCGTACAAAAGC	8085
rs34813816	in-del	-/C			upstream-variant-2KB, utr-variant-3-prime, nc-transcript-variant	PRKAG1, KMT2D	GRCh38.p7	12:49019892	AACAGCGACCAAGCT[-/C]CCCCTCCAGCAGGCC	8085
rs34909216	in-del	-/A			intron-variant	KMT2D	GRCh38.p7	12:49045480	AACCCCATCTCTACT[-/A]AAAAATACAAAAAAT	8085
rs35012088	in-del	-/G			intron-variant	KMT2D	GRCh38.p7	12:49045317	GCCATATCACGATGG[-/G]AGATGTCCCTGGCCC	8085
rs35050033	in-del	-/G			frameshift-variant, nc-transcript-variant	KMT2D	GRCh38.p7	12:49039990	CGCTGCTGGGCCCCA[-/G]GGGGCTGCCCGATGG	8085
rs35087111	snp	C/T	0.444444	0.157135	KMT2D	12	allele_origin=T(germline)/C(germline)	12:49034855	TGCCCTGAGCCATCA[C/T]TTTCTTGATGCCTTT	8085
rs35111108	snp	C/G	0.000153201	0.00875082	KMT2D	12	allele_origin=G(germline)/C(germline)	12:49040572	AGGGCAGTGAGCGAG[C/G]GGGCAGAGCACAGCA	8085
rs35152920	in-del	-/C			intron-variant	KMT2D	GRCh38.p7	12:49041783	TAGTGTTTTCACACT[-/C]CCCTACCCAGAAGCA	8085
rs35258682	in-del	-/G			upstream-variant-2KB, utr-variant-3-prime, nc-transcript-variant	PRKAG1, KMT2D	GRCh38.p7	12:49020133	AAGCTTGGGCAGAAA[-/G]GGGGAAGGAAAGGGA	8085
rs35376412	in-del	-/G			frameshift-variant, nc-transcript-variant	KMT2D	GRCh38.p7	12:49051794	ATAGGCGAGTCCTCA[-/G]GTGGTGGGGACAGGC	8085
rs35493001	in-del	-/C			frameshift-variant, nc-transcript-variant	KMT2D	GRCh38.p7	12:49033612	TTGCCAGGGAAGAAG[-/C]CCCCTGAAGGGCCAG	8085
rs35540729	in-del	-/G			frameshift-variant, nc-transcript-variant	KMT2D	GRCh38.p7	12:49043880	ACCTGCAAGTAAGCA[-/G]GGGAACATGTCCTCC	8085
rs35584294	in-del	-/A			frameshift-variant, nc-transcript-variant	KMT2D	GRCh38.p7	12:49040288	GGCAGGGCTGCTGGG[-/A]AACCCCCCAGCCCCC	8085
rs35740652	in-del	-/C			intron-variant	KMT2D	GRCh38.p7	12:49046039	CCTGCTCTGACTCCT[-/C]CCCCTACCCAGCAGC	8085
rs35825401	in-del	-/T			intron-variant	KMT2D	GRCh38.p7	12:49046977	AGCCTCCCAAGTAGC[-/T]TGAGATTACAGGCAC	8085
rs35841807	in-del	-/G			upstream-variant-2KB, utr-variant-3-prime, nc-transcript-variant	PRKAG1, KMT2D	GRCh38.p7	12:49020060	ACCAGAGAGGGGTTT[-/G]GGGGCCTCACCCACC	8085
rs35891250	in-del	-/A			utr-variant-3-prime, nc-transcript-variant	KMT2D	GRCh38.p7	12:49021304	GAGGGTGGGGGCAGG[-/A]ACCCGGCAGGCAGGG	8085
rs35906138	in-del	-/A			intron-variant	KMT2D	GRCh38.p7	12:49059484	CTTGACAGACCCTGC[-/A]CAAAGGAACGCTCCC	8085
rs35987200	in-del	-/C			frameshift-variant, nc-transcript-variant	KMT2D	GRCh38.p7	12:49040014	CGATGGGTGGAAGTT[-/C]CCCTGTGGCTACTGT	8085

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