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
rs478911	snp	A/C	0.39121	0.2063	intron-variant	OPTN	GRCh38.p7	10:13102281	GGCCCAACTGACCCA[A/C]CAGAGTCACCTCCTG	10133
rs489040	snp	A/G	0.499908	0.00678851	intron-variant	OPTN	GRCh38.p7	10:13122596	AGAAATATAGAAATC[A/G]TGTTGATATTGAATA	10133
rs523747	snp	A/G	0.00530298	0.0512188	missense	OPTN	GRCh38.p7	10:13124076	CATACAAAACTCAGC[A/G]AAGCTGAGCTAATGA	10133
rs530107	snp	A/G	0.388775	0.207946	intron-variant	OPTN	GRCh38.p7	10:13106061	AGCAGATTTTTAGAA[A/G]TGTGTTTGGTTTCAT	10133
rs532144	snp	A/G	0.410399	0.191761	intron-variant	OPTN	GRCh38.p7	10:13105808	GATTCTCCTGCCTCA[A/G]CCTCCCAAGTAGCTG	10133
rs545734	snp	C/G	0.335559	0.234904	intron-variant	OPTN	GRCh38.p7	10:13117899	TTTATGCCAATTACT[C/G]TGTTTGACGAAAGAA	10133
rs546915	snp	C/G	0.35729	0.225807	intron-variant	OPTN	GRCh38.p7	10:13103751	ACACATGCACACACA[C/G]ACACACACACACACA	10133
rs562895	snp	C/T	0.0644693	0.167566	intron-variant, upstream-variant-2KB	OPTN, CCDC3	GRCh38.p7	10:13101697	CATGTGTATGAGGAG[C/T]ATTAGAATCTGTGTT	10133
rs568122	snp	C/T	0.190205	0.242744	intron-variant	OPTN	GRCh38.p7	10:13119241	cagaaagcacattgc[C/T]tggaggagcagacag	10133
rs577910	snp	C/T	0.0524604	0.153226	intron-variant	OPTN	GRCh38.p7	10:13116679	CTGGTCTGGGTCAAA[C/T]GGCACCGGGGAACCA	10133
rs583277	snp	C/T	0.368733	0.220005	intron-variant	OPTN	GRCh38.p7	10:13124875	TTAACACAATGTATA[C/T]AGAAGAAATTACAAC	10133
rs599557	snp	A/G	0.489318	0.0722982	intron-variant	OPTN	GRCh38.p7	10:13117197	gctactcgggaggct[A/G]aggcaggagaatggc	10133
rs599988	snp	C/T	0.479984	0.0980171	intron-variant	OPTN	GRCh38.p7	10:13117107	ggcaacagaacaaga[C/T]tccgtctcaaaaaaa	10133
rs658064	snp	C/T	0.428484	0.175052	intron-variant	OPTN	GRCh38.p7	10:13121062	ACCAGGTGGAGGTAA[C/T]TGAATCACGGGGGCA	10133
rs660592	snp	C/T	0.453697	0.14494	intron-variant	OPTN	GRCh38.p7	10:13106267	AAAATAGGGTTTTAC[C/T]GAGTAACAGTGTTCC	10133
rs674051	snp	A/G	0.327211	0.237778	intron-variant	OPTN	GRCh38.p7	10:13126373	gaatggcgtgaaccc[A/G]ggaggcggagcttgc	10133
rs676302	snp	A/C	0.310632	0.242536	intron-variant	OPTN	GRCh38.p7	10:13125860	ACCTTCTGAACACTC[A/C]AGTAGAAAAATCTTC	10133
rs676312	snp	C/T	0.0271762	0.113356	intron-variant	OPTN	GRCh38.p7	10:13125857	TTCTGAACACTCCAG[C/T]AGAAAAATCTTCTCG	10133
rs678089	snp	G/T	0.030665	0.119967	intron-variant	OPTN	GRCh38.p7	10:13119164	acagtggttgcacaa[G/T]cctggaatattctaa	10133
rs765884	snp	C/T	0.306679	0.24349	intron-variant	OPTN	GRCh38.p7	10:13122332	CTGTAATAATTGCTA[C/T]TTCTCTTAAAGCCAA	10133
rs825411	snp	C/T	0.49999	0.00219646	intron-variant	OPTN	GRCh38.p7	10:13127374	GTGACTCGTTGATAC[C/T]GTTATTTTGCCACTT	10133
rs1251134	snp	A/C	0.089084	0.191327	intron-variant	OPTN	GRCh38.p7	10:13105254	TCATGAATAGCTATA[A/C]CTGTCCTAATGACAG	10133
rs1561570	snp	C/T	0.490997	0.0664859	intron-variant	OPTN	GRCh38.p7	10:13113726	CCTCTGTAGTATAGA[C/T]GGTCACTTTCGATGA	10133
rs1659848	snp	A/C			intron-variant	OPTN	GRCh38.p7	10:13117449	caaaaaaaaaaaaaa[A/C]aaaaaaaaaCTCCAT	10133
rs1761796	snp	A/G	0.312104	0.242163	intron-variant	OPTN	GRCh38.p7	10:13120128	gccgggactacaggc[A/G]cccgccaccacgccc	10133
rs1761802	snp	C/T	0.0103295	0.0711199	intron-variant	OPTN	GRCh38.p7	10:13109036	AGTCCCACAAACCCA[C/T]TGGCGATTGCTAATA	10133
rs1802343	snp	G/T			stop-gained	OPTN	GRCh38.p7	10:13127838	CAGCTGCAAATGGAT[G/T]AAATGAAGCAAACCA	10133
rs2043947	snp	C/G	0.410737	0.191478	intron-variant	OPTN	GRCh38.p7	10:13123481	GTTTTAGTCAACAGG[C/G]AACTATTATTCACTG	10133
rs2234968	snp	A/G	0.363207	0.22291	synonymous-codon	OPTN	GRCh38.p7	10:13109224	CCCAAACCTGGACAC[A/G]TTTACCCCGGAGGAG	10133
rs2244380	snp	A/G	0.300843	0.244775	intron-variant	OPTN	GRCh38.p7	10:13116262	GCTTCTCCTTCCTGT[A/G]AAAACAGAAATGCAA	10133
rs2277219	snp	C/T	0.000236694	0.0108762	intron-variant	OPTN	GRCh38.p7	10:13122506	AGTCCTAAGATTCCA[C/T]GGCCACTACCACACC	10133
rs2304706	snp	G/T	0.224116	0.248656	intron-variant	OPTN	GRCh38.p7	10:13108044	GATATCTTTAGGTAT[G/T]GCATGGTCTGAAATT	10133
rs2580914	snp	A/T	0.0685596	0.171987			GRCh38.p7	10:13100386	GGGCAGGGCGGCGGG[A/T]ACCGTTTTCAGGCCG	10133
rs2580915	snp	C/G	0.0209421	0.100162			GRCh38.p7	10:13100211	ATGGGACGCTGACCA[C/G]GGAACCTGCCGGCGG	10133
rs2895549	snp	A/G	0.000399281	0.0141238	intron-variant	OPTN	GRCh38.p7	10:13111878	cctgggcaacagagc[A/G]agactccatctcaaa	10133
rs3740209	snp	A/G	0.432797	0.170544	intron-variant	OPTN	GRCh38.p7	10:13131814	ATTAATGGTACCTAC[A/G]GTATTTAAACTACCT	10133
rs3814657	snp	G/T	0.277867	0.248442	utr-variant-5-prime, upstream-variant-2KB	OPTN, CCDC3	GRCh38.p7	10:13100087	GAAATTCCCCGGCGC[G/T]GGCAGGGAGCGGCTG	10133
rs3814658	snp	C/T	0.0482946	0.147699	intron-variant	OPTN	GRCh38.p7	10:13118654	ACGTGGGTGTGTGCA[C/T]TGTAAGCTGGCCTCT	10133
rs3829923	snp	C/T	0.357664	0.225629	upstream-variant-2KB, utr-variant-5-prime	OPTN, CCDC3	GRCh38.p7	10:13099144	ACCAACTCGAGGGCC[C/T]GGAATTGGGTCTGGG	10133
rs3829924	snp	A/G	0.0948562	0.196037	upstream-variant-2KB, utr-variant-5-prime	OPTN, CCDC3	GRCh38.p7	10:13099608	ATTCGTCCGCAACAA[A/G]AGCCCAAGAAGCATC	10133
rs4748020	snp	C/G	0.350982	0.228698	intron-variant, upstream-variant-2KB	OPTN, CCDC3	GRCh38.p7	10:13100327	GGCAGGGGGCTGCAG[C/G]GGTGGGCGAGGGGGC	10133
rs4750310	snp	A/G	0.350982	0.228698	intron-variant, upstream-variant-2KB	OPTN, CCDC3	GRCh38.p7	10:13100782	GTGTGTACACTCTAT[A/G]TAGAGAGAATATTTG	10133
rs6602633	snp	A/G	0.343701	0.231776	intron-variant	OPTN	GRCh38.p7	10:13134047	CTCCTGACCTCAACT[A/G]ACCTGCCTGTCTCGG	10133
rs7068431	snp	C/T	0	0	missense	OPTN	GRCh38.p7	10:13124034	AACCTCCAGGTGACA[C/T]CTCTGTTTAAGGAGC	10133
rs7068612	snp	C/G	0.408871	0.193029	intron-variant	OPTN	GRCh38.p7	10:13133860	GTCGTCCAGGCTGGA[C/G]TGCAGTGGCGAGATC	10133
rs7069456	snp	C/T	0.40386	0.197046	intron-variant	OPTN	GRCh38.p7	10:13126435	acaggcgcccgccac[C/T]gcgcccggctaattt	10133
rs7072394	snp	G/T	0.0588605	0.161139	intron-variant	OPTN	GRCh38.p7	10:13124429	CTGATGACATTGATG[G/T]GAGTAAGCATAAAGA	10133
rs7072752	snp	A/G	0.499942	0.00539106	intron-variant, upstream-variant-2KB	OPTN, CCDC3	GRCh38.p7	10:13100780	GAGTGTGTACACTCT[A/G]TATAGAGAGAATATT	10133
rs7078784	snp	A/T	0.350327	0.228986	intron-variant	OPTN	GRCh38.p7	10:13136201	GTCAAGAAAAAAAAG[A/T]AAAGAAAAGAAAAAA	10133
rs7086894	snp	A/C	0.44546	0.155869	intron-variant	OPTN	GRCh38.p7	10:13133682	AATGGATTCCAAATC[A/C]AGGCACCAAAAATAT	10133
rs7087090	snp	A/G	0.0260105	0.111035	intron-variant	OPTN	GRCh38.p7	10:13136058	caggtgtggtggcac[A/G]tgcctgtagtcgcag	10133
rs7089453	snp	C/T	0.031825	0.122064	intron-variant	OPTN	GRCh38.p7	10:13130960	gtcacactcctgtca[C/T]ccaggctggagtgca	10133
rs7095146	snp	A/C	0.491783	0.0635686	intron-variant	OPTN	GRCh38.p7	10:13119409	ttccttgctgaataa[A/C]cttccattgtctata	10133
rs7475073	snp	G/T			upstream-variant-2KB	OPTN, CCDC3	GRCh38.p7	10:13100033	ATGGAATGGGCAGGG[G/T]GGGGGGGATGGGCGG	10133
rs7895403	snp	A/G	0.483636	0.0889627	intron-variant	OPTN	GRCh38.p7	10:13112110	cacctcggcctccca[A/G]agtgctgggattaca	10133
rs7898510	snp	C/T	0	0	intron-variant	OPTN	GRCh38.p7	10:13117955	ACAATTCTTCACGTT[C/T]CCCCCAAATTGCTTT	10133
rs7900633	snp	A/G	0.415727	0.187175	intron-variant	OPTN	GRCh38.p7	10:13106467	CACATAGATACAAAA[A/G]GTTCAAAAATGAATC	10133
rs7905921	snp	A/G	0.239902	0.249796	intron-variant	OPTN	GRCh38.p7	10:13111697	tgagactctgtctgg[A/G]aaaaaaaaaTTGTCA	10133
rs7907033	snp	A/G	0.282105	0.24793	intron-variant	OPTN	GRCh38.p7	10:13129390	acagagtctagctct[A/G]tcaccaggctggagt	10133
rs7908114	snp	C/T			intron-variant	OPTN	GRCh38.p7	10:13129490	cccaagtagctggga[C/T]tacaggcgcacacca	10133
rs7910995	snp	C/T	0.0263992	0.111815	intron-variant	OPTN	GRCh38.p7	10:13135309	GGTCAGGGCTTATTT[C/T]GAACATGCTCTGATT	10133
rs7911161	snp	A/C	0.356383	0.226236	intron-variant	OPTN	GRCh38.p7	10:13105362	AAAGAATATTTTTCA[A/C]AGAGTTCATAAGGAT	10133
rs7917051	snp	C/T	0.5	0	intron-variant, upstream-variant-2KB	OPTN, CCDC3	GRCh38.p7	10:13101402	CCTCCACCCCCCCAC[C/T]CCCCCACCCACCCCC	10133
rs7919563	snp	A/C	0.427575	0.175975	intron-variant	OPTN	GRCh38.p7	10:13128292	CAGAGTGGTTGGACC[A/C]GTTTTCACTCCCATC	10133
rs7919764	snp	A/C	0.0115144	0.0749975	intron-variant	OPTN	GRCh38.p7	10:13128420	atttgcatttccctg[A/C]tcactaatgggaaag	10133
rs7919908	snp	C/T	0.498437	0.0279115	intron-variant	OPTN	GRCh38.p7	10:13107247	AGGCATGGTGGCTGA[C/T]GCCTATAGTCCCAGC	10133
rs7921853	snp	G/T	0.418814	0.184396	intron-variant	OPTN	GRCh38.p7	10:13110666	GTCATGGATAATCTC[G/T]TTTAGAAGAAAGAAA	10133
rs10047381	snp	A/C	0	0	missense	OPTN	GRCh38.p7	10:13110295	TGAAGCTAAATAATC[A/C]AGCCATGAAAGGGAG	10133
rs10450534	snp	C/T	0.00835141	0.0640778	intron-variant	OPTN	GRCh38.p7	10:13114604	AGATTTAGGAAGAAA[C/T]ATCAAAAATATCTAG	10133
rs10752285	snp	A/G	0.376791	0.215463	intron-variant	OPTN	GRCh38.p7	10:13115659	TATATATATTTATAC[A/G]TATATACCTAGAACT	10133
rs10752286	snp	A/T	0.49306	0.0584955	intron-variant	OPTN	GRCh38.p7	10:13118103	CACATGGCTATTTTT[A/T]AAATAACAGCTCTGT	10133
rs10752287	snp	C/T	0.324382	0.238678	intron-variant	OPTN	GRCh38.p7	10:13128888	TGTATACTGCACATA[C/T]AAGTCTTTGTCAGTT	10133
rs10796022	snp	A/T	0.0693013	0.172766	upstream-variant-2KB, intron-variant	OPTN, CCDC3	GRCh38.p7	10:13099045	AAAAAGAATTTTTTT[A/T]AATTCTCTATTTCTC	10133
rs10796023	snp	C/T	0.0209421	0.100162	intron-variant	OPTN	GRCh38.p7	10:13111425	ATCGTGGGCTAGGCA[C/T]GGTGGCTCACACCTG	10133
rs10796024	snp	C/T	0.375598	0.21616	intron-variant	OPTN	GRCh38.p7	10:13114761	ACAATTATATAATTG[C/T]ATATATAATTATATA	10133
rs10796026	snp	C/T	0.492679	0.0600586	intron-variant	OPTN	GRCh38.p7	10:13118258	TGAAAGAGTAGCTGC[C/T]GTTAGCATCATCATA	10133
rs10796027	snp	A/C	0.417845	0.185278	intron-variant	OPTN	GRCh38.p7	10:13127035	TCTAAAAAAAGAAAA[A/C]AATAAATAAATTAGT	10133
rs10796028	snp	G/T	0.421842	0.181577	intron-variant	OPTN	GRCh38.p7	10:13127512	ATAAGTTAGCGTTGC[G/T]GATTAATAGACTGGT	10133
rs10796029	snp	A/G	0.427271	0.176281	intron-variant	OPTN	GRCh38.p7	10:13128872	AATGTAATGACTTCT[A/G]TGTATACTGCACATA	10133
rs10906301	snp	C/T	0.456214	0.141336	intron-variant	OPTN	GRCh38.p7	10:13102033	TAATTTCAGAATGGG[C/T]GGAGGAGGTGGAAAT	10133
rs10906302	snp	A/G	0.029116	0.117091	intron-variant	OPTN	GRCh38.p7	10:13107524	GCTGGGACTACAGGC[A/G]CCTGCCACCATGCTT	10133
rs10906303	snp	A/G	0.298905	0.24517	intron-variant	OPTN	GRCh38.p7	10:13109354	ATGCCATCCCTTTGC[A/G]CTAAGGCTTGGTGGT	10133
rs10906305	snp	C/T	0.331411	0.236373	intron-variant	OPTN	GRCh38.p7	10:13126441	GCCCGCCACCGCGCC[C/T]GGCTAATTTTTTGTA	10133
rs10906306	snp	A/G	0.380919	0.21298	intron-variant	OPTN	GRCh38.p7	10:13128382	TTAACCACTCTGGAG[A/G]GTATATAGTGGTATC	10133
rs10906307	snp	C/G	0.332106	0.236133	intron-variant	OPTN	GRCh38.p7	10:13128429	TCCCTGATCACTAAT[C/G]GGAAAGAGTACTTTT	10133
rs10906308	snp	A/G	0.331642	0.236293	intron-variant	OPTN	GRCh38.p7	10:13128467	TTTTTGGCCTTTGAG[A/G]TATCCTCTTTTGTGA	10133
rs10906309	snp	G/T	0.333952	0.235483	intron-variant	OPTN	GRCh38.p7	10:13131146	GGCTGTCAGCAGGAG[G/T]CCTCAGTTCCTCACC	10133
rs10906310	snp	A/C	0.389469	0.207481	intron-variant	OPTN	GRCh38.p7	10:13136697	CAAGTGAAACAAACA[A/C]AACTGCCTGCAAAAT	10133
rs11258186	snp	A/G	0.0995161	0.199636	intron-variant	OPTN	GRCh38.p7	10:13103649	ATCATTTCTAAGGCC[A/G]ACTCAGCAATCAGAT	10133
rs11258187	snp	C/G			intron-variant	OPTN	GRCh38.p7	10:13104586	ATACTCATTCCAAGG[C/G]TTCTAACATGAGGAT	10133
rs11258188	snp	C/T	0.00119737	0.0244387	intron-variant	OPTN	GRCh38.p7	10:13104944	TGGTGGTAACTACGC[C/T]GACGTGCGAGCTCTG	10133
rs11258189	snp	G/T			intron-variant	OPTN	GRCh38.p7	10:13107436	catgctggagtgcag[G/T]ggcacgatctcggct	10133
rs11258190	snp	G/T	0.357451	0.225731	intron-variant	OPTN	GRCh38.p7	10:13107551	GCTTGGCTAATTTTT[G/T]GTATTTTTTTTATTA	10133
rs11258191	snp	A/G	0.00636936	0.0560724	intron-variant	OPTN	GRCh38.p7	10:13108040	AAAAAATTTCAGACC[A/G]TGCAATACCTAAAGA	10133
rs11258192	snp	A/G			intron-variant	OPTN	GRCh38.p7	10:13108732	tttgtatttttagta[A/G]agacggggtttcact	10133
rs11258193	snp	G/T	0.144969	0.226867	intron-variant	OPTN	GRCh38.p7	10:13109610	GCAGAAGGATTGCTT[G/T]AGTACAGGAGTTCAA	10133
rs11258194	snp	A/T	0.0862981	0.188949	OPTN	10	allele_origin=T(germline)/A(germline)	10:13110400	CAAAAGAGCGTCTAA[A/T]GGCCTTGAGTCATGA	10133
rs11258195	snp	A/G	0.34101	0.232846	intron-variant	OPTN	GRCh38.p7	10:13111993	gctgggactacaggc[A/G]cccgccaccacgccc	10133
rs11258196	snp	A/G	0.393619	0.204631	intron-variant	OPTN	GRCh38.p7	10:13112141	ggcgtgagccaccac[A/G]cctggctTGGCtttt	10133
rs11258197	snp	A/G			intron-variant	OPTN	GRCh38.p7	10:13112173	TTTTTTTTTTTTTGA[A/G]ACAGGGTCTTGgcag	10133

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