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
rs881302	snp	A/G	0.428333	0.175206	intron-variant	NPHP1	GRCh38.p7	2:110184573	TGCCCATCTATCAGG[A/G]CTTTGCCATGCCCCA	4867
rs906815	snp	C/T	0.465578	0.126594	intron-variant	NPHP1	GRCh38.p7	2:110184919	CTGACTTCTGGATGG[C/T]GAACACCAGGACCTT	4867
rs979376	snp	A/T	0.0301572	0.119034	intron-variant	NPHP1	GRCh38.p7	2:110161731	TTGGAGTTTCTTTCT[A/T]TGTAAGAAAATGAAG	4867
rs1154652	snp	C/T	0.3742	0.216966	intron-variant	NPHP1	GRCh38.p7	2:110177146	ggttgatattcttga[C/T]atagggagacacatg	4867
rs1183419	snp	C/T	0	0	intron-variant	NPHP1	GRCh38.p7	2:110135682	GGTTTTTGAGATTTT[C/T]TATATGGTCCTTCCT	4867
rs1184331	snp	C/T	0	0	intron-variant	NPHP1	GRCh38.p7	2:110135518	ATCATGTGTGAGGGT[C/T]TTAAAGAACTCACtt	4867
rs1396750	snp	A/G	0.498813	0.0243321	intron-variant	NPHP1	GRCh38.p7	2:110148519	TTATAATGCAAAGGC[A/G]TAAACTATTTACTAA	4867
rs1509416	snp	A/T	0.470618	0.117591	intron-variant	NPHP1	GRCh38.p7	2:110148166	GCCCTCATGACCCAA[A/T]CACCTCCCACCAGGC	4867
rs1509417	snp	C/T	0.498754	0.0249289	intron-variant	NPHP1	GRCh38.p7	2:110148087	CATTTATTCAAACCA[C/T]ATCAAACCCCCTTCC	4867
rs1509418	snp	C/T	0.0119091	0.0762411	intron-variant	NPHP1	GRCh38.p7	2:110144627	ATTTAACTACTGACT[C/T]CAGTGTTTTCTACAT	4867
rs1509419	snp	C/T	0.0460963	0.144649	intron-variant	NPHP1	GRCh38.p7	2:110144616	GACTCCAGTGTTTTC[C/T]ACATGCCCACAGCTT	4867
rs1509422	snp	A/G	0.471768	0.115407	intron-variant	NPHP1	GRCh38.p7	2:110128770	GTGTTATGTTAAATC[A/G]TATGAAATCTCCAAT	4867
rs1567366	snp	C/T	0.498852	0.0239341	intron-variant	NPHP1	GRCh38.p7	2:110126152	AATTTCTGTGAAGCC[C/T]TGTGGACAGATTAGA	4867
rs1588327	snp	A/C	0.433236	0.170072	intron-variant	NPHP1	GRCh38.p7	2:110133856	acacaacataccaaa[A/C]tttacaagatacagt	4867
rs1810096	snp	C/G	0.498754	0.0249289	intron-variant	NPHP1	GRCh38.p7	2:110185239	AACACTCTGACTCAA[C/G]AAAGCGAGTTTTAAA	4867
rs1810097	snp	A/G	0.498852	0.0239341	intron-variant	NPHP1	GRCh38.p7	2:110185117	TTCTTGGAGACCCAC[A/G]TCTTCTTAAAGGTGT	4867
rs1848682	snp	A/G	0.498813	0.0243321	intron-variant	NPHP1	GRCh38.p7	2:110148330	CTCAGGAAGCTTCCA[A/G]TCATGGCAGAAGGTG	4867
rs1912095	snp	A/G	0.0611083	0.163768	intron-variant	NPHP1	GRCh38.p7	2:110181613	ataggatttttgttg[A/G]gtttttattgttgat	4867
rs1975362	snp	A/G	0.0603597	0.1629	intron-variant	NPHP1	GRCh38.p7	2:110135333	CCTGCCAACACGCCC[A/G]GCTAATTTTTTGTAT	4867
rs2018711	snp	C/T	0.498852	0.0239341	intron-variant	NPHP1	GRCh38.p7	2:110185079	GCAAGGATAGAGCCC[C/T]CAATCCACGTGGAAT	4867
rs2048243	snp	C/T	0.469839	0.119042	intron-variant	NPHP1	GRCh38.p7	2:110125122	tatagatggaaaatc[C/T]tcttggcttttcagg	4867
rs2136402	snp	C/T			intron-variant	NPHP1	GRCh38.p7	2:110180545	agaccacagctgctt[C/T]taattggccatcttg	4867
rs2175119	snp	C/T	0.0611083	0.163768	intron-variant	NPHP1	GRCh38.p7	2:110158482	atctgaaatttaaca[C/T]acaagaaataaaaat	4867
rs2175120	snp	A/G			intron-variant	NPHP1	GRCh38.p7	2:110135638	ctaatactattttta[A/G]aaatatataaaCTCT	4867
rs2202875	snp	A/T	0.465368	0.126951	intron-variant	NPHP1	GRCh38.p7	2:110183031	TTTGTCTTTTTTTTA[A/T]CTTTATTGGCTTAAA	4867
rs2271242	snp	A/C	0.104149	0.203046	intron-variant	NPHP1	GRCh38.p7	2:110129561	CCACAGCCATAAGGA[A/C]GAAAGAGAAGTTGAA	4867
rs2271243	snp	A/C	0.0209421	0.100162	intron-variant	NPHP1	GRCh38.p7	2:110164872	AATTATTTTTAATAC[A/C]TTTAGCTCTACCTCG	4867
rs2271244	snp	A/G	0.461542	0.133229	intron-variant	NPHP1	GRCh38.p7	2:110161744	ATGGATTTTTGATTT[A/G]GAGTTTCTTTCTTTG	4867
rs2271245	snp	C/T	0.471004	0.116864	intron-variant	NPHP1	GRCh38.p7	2:110178290	ATCAGTCAACATTTA[C/T]TTATTGTGTATAATA	4867
rs2864665	snp	C/T	0.478354	0.101757	intron-variant	NPHP1	GRCh38.p7	2:110143318	ATCTGTTATTTGAGC[C/T]ATCTAGTAAATAGAA	4867
rs3086118	in-del	-/CT	0.477853	0.102875	intron-variant	NPHP1	GRCh38.p7	2:110198799	TAGCAGGAAGGACCC[-/CT]CTCTATCTAACAGTA	4867
rs3086121	in-del	-/A			intron-variant	NPHP1	GRCh38.p7	2:110180471	CTCACATCTATAAGC[-/A]AAAAAAAAAAAAAAA	4867
rs3197353	snp	A/C			intron-variant	NPHP1	GRCh38.p7	2:110184756	TTACCTATCCATAAA[A/C]CCCCAAAAGGATGAG	4867
rs3748031	snp	G/T	0.000117079	0.00765023	intron-variant	NPHP1	GRCh38.p7	2:110124113	TAGAGTTCACAGAAT[G/T]TAACACTTTAAAAAT	4867
rs3752863	snp	C/T	0.477937	0.102688	intron-variant	NPHP1	GRCh38.p7	2:110144685	CTTTTCATTTACCAA[C/T]GAGGCATAAATGAAA	4867
rs3789726	snp	C/T	0.131723	0.220251	upstream-variant-2KB	NPHP1	GRCh38.p7	2:110205149	GAGGAAAAGTGACTC[C/T]CCCGGCTGTGACCTG	4867
rs3789727	snp	C/T	0.357238	0.225832	intron-variant	NPHP1	GRCh38.p7	2:110149747	TCAGCATTGCATAGA[C/T]GTAGGGAGGACAAAG	4867
rs3789732	snp	G/T	0.498832	0.0241331	intron-variant, downstream-variant-500B	NPHP1	GRCh38.p7	2:110147642	CTTTGCAGAAAGTGA[G/T]AAAAGATGCTCACTG	4867
rs3789733	snp	C/T	0.499265	0.0191552	intron-variant	NPHP1	GRCh38.p7	2:110128779	AACTGTTGAGTGTTA[C/T]GTTAAATCGTATGAA	4867
rs3789735	snp	C/T	0.47852	0.101384	intron-variant	NPHP1	GRCh38.p7	2:110128565	CCAAATTCTGTTTCA[C/T]TAGAGAGGTCCTGCA	4867
rs3789736	snp	C/G	0.498369	0.0285077	intron-variant	NPHP1	GRCh38.p7	2:110128471	GTCTGCTCATGCTAA[C/G]CCTTCTACCTGCAAC	4867
rs3817140	snp	C/T	0.473266	0.112482	intron-variant	NPHP1	GRCh38.p7	2:110161464	TTGAAAATAGCGATA[C/T]TTTTATAACTAAGGC	4867
rs3838315	in-del	-/ATCTGGTC	0.499035	0.0219437	intron-variant	NPHP1	GRCh38.p7	2:110129109	TTAATGAGTTCTGTC[-/ATCTGGTC]NNNNNNNTAGGCCTT	4867
rs4284881	snp	A/G	0.497641	0.0342639	intron-variant	NPHP1	GRCh38.p7	2:110173909	ttcctaaatgagtat[A/G]catttaataatatgg	4867
rs4353695	snp	G/T	0.498908	0.0233371	intron-variant	NPHP1	GRCh38.p7	2:110143072	GTAGTCAGCTCTGTA[G/T]CCCCAGCCTCAGGCA	4867
rs4368380	snp	G/T	0.498908	0.0233371	intron-variant	NPHP1	GRCh38.p7	2:110143055	CCCAGCCTCAGGCAG[G/T]CACACCTATTTTCTT	4867
rs4953755	snp	C/G	0.479744	0.0985793	intron-variant	NPHP1	GRCh38.p7	2:110155909	GAGAAGGCATGATAG[C/G]TTTGGAAATGTGAGG	4867
rs4953841	snp	A/G	0.498813	0.0243321	intron-variant	NPHP1	GRCh38.p7	2:110137465	tctacagtgaactca[A/G]acaaatttacaagaa	4867
rs4953842	snp	A/G	0.0611083	0.163768	intron-variant	NPHP1	GRCh38.p7	2:110170901	GGTAGGGCAAGGCTT[A/G]AGGAAAATGAGTGAG	4867
rs4953845	snp	A/T	0.473543	0.111932	intron-variant	NPHP1	GRCh38.p7	2:110188612	atagattcaatgcta[A/T]tcccatcaaacttcc	4867
rs5833367	in-del	-/CAGATGAC	0.5	0	intron-variant	NPHP1	GRCh38.p7	2:110129112	AAAAAAGGCCTAGAC[-/CAGATGAC]AGAACTCATTAACAC	4867
rs5833368	in-del	-/A	0.436408	0.16659	intron-variant	NPHP1	GRCh38.p7	2:110179149	AAAAAAAAAAAAAAA[-/A]TCCTGAAGGGATTGT	4867
rs6707554	snp	A/G	0.496416	0.0421803	intron-variant	NPHP1	GRCh38.p7	2:110192047	GTAGATAAAACCACA[A/G]AGATGGGGAAAAAAC	4867
rs6707877	snp	C/T	0.473543	0.111932	intron-variant	NPHP1	GRCh38.p7	2:110187024	ATGCAGCTAAAGCAG[C/T]GTTCAGAGGAAAATT	4867
rs6711385	snp	C/T	0.239037	0.24976	intron-variant	NPHP1	GRCh38.p7	2:110190364	GCGGGCTGAAGGTCC[C/T]GAGCCCTGCCCCGCG	4867
rs6714985	snp	A/G	0.261884	0.249717	intron-variant	NPHP1	GRCh38.p7	2:110199223	GGATCACCTGAAGTC[A/G]GGAGTTTGAGAGCAG	4867
rs6717760	snp	A/C	0.468148	0.122112	intron-variant	NPHP1	GRCh38.p7	2:110190861	AAAATAAGCAAATTT[A/C]TAAGAAAAAAAAACC	4867
rs6720546	snp	C/T	0.114738	0.210248	intron-variant	NPHP1	GRCh38.p7	2:110190285	CTGTGGAGCAGGGGG[C/T]GGCACTTGTCAGGGA	4867
rs6728583	snp	C/T	0.498871	0.0237351	intron-variant	NPHP1	GRCh38.p7	2:110192194	GAAGAAGGCTTCAGA[C/T]GATCAAACTTCTCCG	4867
rs6738643	snp	C/T	0.131038	0.219882	intron-variant	NPHP1	GRCh38.p7	2:110172386	ttatttttattattt[C/T]tttcctgctctcctt	4867
rs6744318	snp	A/T	0.114387	0.210022	intron-variant	NPHP1	GRCh38.p7	2:110171886	cttctagtgttcttg[A/T]catgttttgatatca	4867
rs6747701	snp	C/T	0.497749	0.0334707	intron-variant	NPHP1	GRCh38.p7	2:110172387	tatttttattatttc[C/T]ttcctgctctccttg	4867
rs6758737	snp	A/G	0.473543	0.111932	intron-variant	NPHP1	GRCh38.p7	2:110186853	ATTTAAAAAAAAGAA[A/G]GAAAGAAAGAAAGAA	4867
rs7421614	snp	C/T	0.472989	0.113031	intron-variant	NPHP1	GRCh38.p7	2:110166791	CATAATCGATAGTGA[C/T]TATAGGTTGGAAACA	4867
rs7424255	snp	A/G	0.0988009	0.199095	intron-variant	NPHP1	GRCh38.p7	2:110156926	ggactacaggcacac[A/G]ccaccacgtccagct	4867
rs7572483	snp	C/G	0.0948562	0.196037	intron-variant	NPHP1	GRCh38.p7	2:110198066	TGAAAAGGTAACAAA[C/G]TCTGAACACTGCAAA	4867
rs7585308	snp	A/G	0.114738	0.210248	intron-variant	NPHP1	GRCh38.p7	2:110200083	gcacggtgaaacccc[A/G]tctctactaaaaata	4867
rs7588215	snp	C/T	0.00716266	0.059414	upstream-variant-2KB	NPHP1	GRCh38.p7	2:110205734	AGCCACAGGCCAGGA[C/T]GAACCATTATTTATG	4867
rs7599788	snp	C/T	0.498832	0.0241331	intron-variant	NPHP1	GRCh38.p7	2:110148838	TGAATTTTCATTTAT[C/T]TTCTCTTTTGCTCAT	4867
rs7601550	snp	A/G	0.0952156	0.196321	intron-variant	NPHP1	GRCh38.p7	2:110134307	tcacaaagaaataga[A/G]aatctcaataacaag	4867
rs7601685	snp	C/T	0.0952156	0.196321	intron-variant	NPHP1	GRCh38.p7	2:110133896	cctaagagggaaatt[C/T]atagctataaatact	4867
rs7608206	snp	C/T	0.046775	0.145601	intron-variant	NPHP1	GRCh38.p7	2:110140890	ACTATAATTATAAAA[C/T]AAATTTCAGTAGTAG	4867
rs9326627	snp	C/G	0.239614	0.249784	intron-variant	NPHP1	GRCh38.p7	2:110200548	agcctgggtgacaga[C/G]tgagatttagtctca	4867
rs9750361	snp	C/G	0.498964	0.02274	intron-variant	NPHP1	GRCh38.p7	2:110194139	aaaagctagcagaag[C/G]caagaaataactaag	4867
rs9807986	snp	C/T	0.132066	0.220435	intron-variant	NPHP1	GRCh38.p7	2:110195488	aactacaaaccactg[C/T]tcaatgaaataaaag	4867
rs10167781	snp	G/T	0.465788	0.126237	intron-variant	NPHP1	GRCh38.p7	2:110187562	actcccaggaccaga[G/T]gaattcacagctgaa	4867
rs10168108	snp	C/T	0.498832	0.0241331	intron-variant	NPHP1	GRCh38.p7	2:110187872	tcaacatatacaaat[C/T]aataaatgtgattca	4867
rs10168630	snp	A/G	0.499	0.0223418	intron-variant	NPHP1	GRCh38.p7	2:110152934	AAATCCCCAAATTTG[A/G]CAAAAGACATAAACC	4867
rs10174448	snp	A/C	0.104859	0.203554	intron-variant	NPHP1	GRCh38.p7	2:110160050	TGGGAATTGGGGAGG[A/C]GTTGAATGGAAAAGA	4867
rs10177822	snp	A/T	0.105214	0.203807	intron-variant	NPHP1	GRCh38.p7	2:110126130	TACAATTTTGTGAGT[A/T]AATATTTCTAATCTG	4867
rs10177824	snp	A/G	0.105214	0.203807	intron-variant	NPHP1	GRCh38.p7	2:110126132	CAATTTTGTGAGTAA[A/G]TATTTCTAATCTGTC	4867
rs10179522	snp	A/C/G	0.49925	0.0193545	intron-variant	NPHP1	GRCh38.p7	2:110136202	CTATCTATGACAAAC[A/C/G]CACAGCCAATATCAT	4867
rs10186834	snp	C/G	0.00914312	0.0669923	intron-variant	NPHP1	GRCh38.p7	2:110138736	GCATGCCCAAACTCA[C/G]GGCTCATGATGAAGA	4867
rs10196865	snp	C/T	0.121022	0.21416	intron-variant	NPHP1	GRCh38.p7	2:110133477	tcaatatcctacttt[C/T]gataaggtatagaac	4867
rs10199183	snp	C/G	0.0126979	0.078662	intron-variant	NPHP1	GRCh38.p7	2:110152519	AGCATGGGGTAGCAA[C/G]GGGCTGGATTTGTAT	4867
rs10202266	snp	A/G	0.256619	0.249912	intron-variant	NPHP1	GRCh38.p7	2:110183422	atccctttatttccc[A/G]taaggaatactttta	4867
rs10205807	snp	C/G	0.152667	0.230274	intron-variant	NPHP1	GRCh38.p7	2:110184619	TGACATCGCAAGCTG[C/G]AACATCTCTCGCTTC	4867
rs10496435	snp	A/G	0.315516	0.241263	intron-variant	NPHP1	GRCh38.p7	2:110171596	ATTGATTTTCAACGC[A/G]TCTCTTTCCTTCTTT	4867
rs11240790	snp	C/T	0.478271	0.101943	intron-variant	NPHP1	GRCh38.p7	2:110131531	GGATCTGAAGATGTC[C/T]CATAAGTAATGTATT	4867
rs11240791	snp	A/G	0.477937	0.102688	intron-variant	NPHP1	GRCh38.p7	2:110182071	tgaattaagacaggc[A/G]gacaagaatagggaa	4867
rs11240793	snp	A/C	0.0614824	0.164198	intron-variant	NPHP1	GRCh38.p7	2:110193818	ctgtctctcagacca[A/C]agtgcaatcaaacta	4867
rs11240794	snp	C/G	0.4711	0.116682	intron-variant	NPHP1	GRCh38.p7	2:110202321	CCATTAGTTTCTTCT[C/G]TACTCTTGCAATTTG	4867
rs11453404	in-del	-/A/AA			intron-variant	NPHP1	GRCh38.p7	2:110168406	TAAAAGCGAAAAAAA[-/A/AA]AAAAAGTCTTAGAAA	4867
rs11546973	snp	A/G			intron-variant	NPHP1	GRCh38.p7	2:110184174	TTCCAAACTATGTGG[A/G]CCGACCCAAGCACGT	4867
rs11675767	snp	C/T	0.470866	0.117126	synonymous-codon	NPHP1	GRCh38.p7	2:110165126	GCCCTCTTCACTTGA[C/T]TCTTGGCCTTCTTCT	4867
rs11676044	snp	A/C	0.479824	0.098392	intron-variant	NPHP1	GRCh38.p7	2:110153780	tgaggtcagtagttc[A/C]agactagcctggcca	4867
rs11677886	snp	C/T	0.473266	0.112482	intron-variant	NPHP1	GRCh38.p7	2:110191398	agagggtcctacgcc[C/T]agagagcctcgctaa	4867
rs11684657	snp	C/T	0.497613	0.0344622	intron-variant	NPHP1	GRCh38.p7	2:110193547	acttagactcccaca[C/T]aataataatgggaga	4867
rs11688553	snp	C/T	0.4711	0.116682	intron-variant	NPHP1	GRCh38.p7	2:110138685	TGCTCATGTTCTGCC[C/T]TTTGGTCCACGGTCC	4867
rs11695276	snp	G/T	0.498794	0.0245311	intron-variant	NPHP1	GRCh38.p7	2:110196102	ggcatgggcaaggac[G/T]tcatgtctaaaacac	4867

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