NPHP1

Basic Information

Gene Symbol	NPHP1
Entrez Id	4867
Position	chr2:110880913..110962639
Description	nephronophthisis 1 (juvenile)
Gene type	protein-coding

SNP Information

SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*
rs10167781	2:110945139	T/G	NPHP1	intron	0.998	0.97482	0.0112	0.02337		7
rs10168108	2:110945449	T/C	NPHP1	intron	0.995	0.96938	0.0109	0.004383		6
rs10168630	2:110910511	A/G	NPHP1	intron	1.000	0.97550	0.0112	0.02634		7
rs10174448	2:110917627	A/C	NPHP1	intron	0.974	0.95753	0.0273	0.1114		7
rs10177822	2:110883707	A/T	NPHP1	intron	0.956	0.95542	0.0275	0.09684		3a
rs10177824	2:110883709	A/G	NPHP1	intron	0.956	0.95542	0.0275	0.09684		3a
rs10179522	2:110893779	C/G	NPHP1	intron	0.983	1.02501	0.0114	0.02998		7
rs10196865	2:110891054	T/C	NPHP1	intron	0.940	1.05180	0.0270	0.06115		7
rs10202266	2:110940999	A/G	NPHP1	intron	0.880	1.05580	0.0251	0.03055		6
rs10496435	2:110929173	A/G	NPHP1	intron	0.946	0.98955	0.0114	0.3557		7
rs112055343	2:110943687	T/C	NPHP1	intron	0.753	1.00501	0.0476	0.9161		7
rs112090979	2:110901100	A/G	NPHP1	intron	0.734	1.01501	0.0463	0.7485		6
rs11240790	2:110889108	T/C	NPHP1	intron	1.010	1.02583	0.0112	0.02287		6
rs114043910	2:110908690	C/G	NPHP1	intron	0.974	0.95724	0.0273	0.1088		5
rs115536539	2:110935425	T/C	NPHP1	intron	0.805	1.03634	0.0280	0.2034		7
rs116005136	2:110922441	C/G	NPHP1	intron	0.682	0.98128	0.0467	0.6862		7
rs116552489	2:110887284	A/G	NPHP1	intron	0.799	0.94205	0.0310	0.05452		7
rs116607139	2:110945151	T/C	NPHP1	intron	0.976	0.95371	0.0272	0.08137		7
rs11898910	2:110937101	T/C	NPHP1	intron	0.981	1.04550	0.0265	0.09368		6
rs11903833	2:110908889	A/C	NPHP1	intron	1.000	0.97590	0.0112	0.02924		6
rs12469947	2:110956045	A/G	NPHP1	intron	0.985	1.03045	0.0110	0.006271		7
rs12614572	2:110957701	A/G	NPHP1	intron	0.991	1.02614	0.0113	0.02262		7
rs12620593	2:110939595	A/G	NPHP1	intron	0.998	1.02439	0.0112	0.03194		7
rs12999216	2:110887808	T/C	NPHP1	intron	0.992	1.02521	0.0109	0.02194		5
rs13003804	2:110898907	A/G	NPHP1	intron	0.675	0.98344	0.0371	0.653		7
rs13003985	2:110924353	T/C	NPHP1	intron	0.738	0.96435	0.0397	0.3598		5
rs13403558	2:110885620	A/C	NPHP1	intron	0.861	0.99631	0.0162	0.8189		6
rs13413536	2:110890100	T/C	NPHP1	intron	1.010	1.02644	0.0112	0.01972		7
rs13413818	2:110958391	T/C	NPHP1	intron	0.998	0.97590	0.0112	0.02909		6
rs13416417	2:110934448	A/T	NPHP1	intron	0.979	1.04928	0.0271	0.07651		6
rs13421489	2:110889966	T/G	NPHP1	intron	1.010	0.97404	0.0112	0.01866		6
rs13423556	2:110906906	A/G	NPHP1	intron	1.000	0.97638	0.0112	0.03272		5
rs13424486	2:110913748	T/C	NPHP1	intron	1.000	1.02491	0.0112	0.02847		7
rs13429665	2:110913256	T/C	NPHP1	intron	1.000	0.97619	0.0112	0.0317		7
rs138267885	2:110961715	T/G	NPHP1	intron	0.754	1.03552	0.0640	0.5861		-
rs138483878	2:110911280	T/C	NPHP1	intron	0.770	1.07433	0.0438	0.1018		-
rs138732827	2:110946884	T/C	NPHP1	intron	0.672	0.92127	0.0602	0.173		-
rs138949864	2:110950842	T/C	NPHP1	intron	0.655	0.94064	0.0564	0.2778		-
rs139209422	2:110882126	C/G	NPHP1	intron	0.700	1.01147	0.0639	0.8586		-
rs140593944	2:110957099	A/G	NPHP1	intron	0.893	0.89539	0.0475	0.02001		-
rs142050569	2:110913333	T/C	NPHP1	intron	0.898	1.12333	0.0466	0.01251		-
rs142136351	2:110951436	A/T	NPHP1	intron	0.691	0.95897	0.0301	0.1639		-
rs142438369	2:110885190	A/G	NPHP1	intron	0.796	1.06067	0.0311	0.05869		-
rs144386428	2:110953897	T/C	NPHP1	intron	0.607	0.96696	0.0475	0.4784		-
rs144471565	2:110938949	A/G	NPHP1	intron	0.893	1.11974	0.0472	0.01658		-
rs145147532	2:110919785	T/C	NPHP1	intron	0.800	0.94158	0.0310	0.05203		-
rs145646364	2:110908213	A/G	NPHP1	intron	0.836	1.02973	0.0262	0.2643		-
rs145956675	2:110925872	T/C	NPHP1	intron	0.893	0.89279	0.0471	0.0162		-
rs146556767	2:110948602	T/C	NPHP1	intron	0.892	0.89324	0.0472	0.01684		-
rs146943169	2:110947029	A/G	NPHP1	intron	0.975	0.95514	0.0271	0.09058		-
rs147938850	2:110935358	A/G	NPHP1	intron	0.819	1.03025	0.0542	0.5826		-
rs148319083	2:110960102	T/C	NPHP1	intron	0.716	0.99005	0.0653	0.8788		-
rs148704263	2:110952370	A/G	NPHP1	intron	0.944	0.94819	0.0290	0.06703		-
rs149875988	2:110882173	A/G	NPHP1	intron	0.765	1.04707	0.0471	0.3284		-
rs151023916	2:110950990	T/C	NPHP1	intron	0.981	0.97443	0.0109	0.0176		-
rs1567366	2:110883729	A/G	NPHP1	intron	0.989	1.02460	0.0112	0.03044		4
rs1588327	2:110891433	A/C	NPHP1	intron	0.959	1.02850	0.0109	0.009808		6
rs17463266	2:110958329	T/C	NPHP1	intron	0.757	1.01796	0.0213	0.4027		7
rs17842062	2:110898167	T/C	NPHP1	intron	1.010	1.02532	0.0112	0.02536		7
rs17842675	2:110923061	A/G	NPHP1	intron	1.010	1.02644	0.0112	0.01956		6
rs17842678	2:110918171	T/C	NPHP1	intron	1.000	0.97414	0.0112	0.01933		6
rs181302069	2:110951124	T/C	NPHP1	intron	0.952	0.96609	0.0114	0.002412		-
rs182389674	2:110951832	A/G	NPHP1	intron	0.852	1.04634	0.0154	0.003172		-
rs182916832	2:110952004	A/G	NPHP1	intron	0.892	0.89844	0.0465	0.0213		-
rs184920184	2:110924338	T/C	NPHP1	intron	0.893	0.89270	0.0471	0.01606		-
rs186489106	2:110956229	A/G	NPHP1	intron	0.862	0.94677	0.0571	0.338		-
rs187485873	2:110916422	T/C	NPHP1	intron	0.868	0.94895	0.0529	0.3223		-
rs188335995	2:110899332	A/G	NPHP1	intron	0.800	0.94195	0.0310	0.05402		-
rs188485673	2:110883734	T/C	NPHP1	intron	0.895	1.12019	0.0468	0.01531		-
rs188843131	2:110951037	T/C	NPHP1	intron	0.975	0.95361	0.0272	0.0803		-
rs189349107	2:110919484	T/C	NPHP1	intron	0.751	1.01918	0.0450	0.6729		-
rs189646262	2:110949301	A/G	NPHP1	intron	0.892	0.89333	0.0472	0.01692		-
rs190579347	2:110951999	T/G	NPHP1	intron	0.732	0.94999	0.0306	0.0935		-
rs191638428	2:110926339	A/G	NPHP1	intron	0.816	1.12064	0.0712	0.1097		-
rs1975362	2:110892910	T/C	NPHP1	intron	0.692	1.03904	0.0351	0.2746		7
rs2048243	2:110882699	A/G	NPHP1	intron	0.984	0.97502	0.0113	0.02482		5
rs2202875	2:110940608	A/T	NPHP1	intron	0.999	0.97531	0.0112	0.0258		6
rs2271242	2:110887138	T/G	NPHP1	intron	0.974	0.95609	0.0272	0.09903		6
rs2271244	2:110919321	T/C	NPHP1	intron	1.010	1.02603	0.0112	0.02179		6
rs2271245	2:110935867	A/G	NPHP1	intron	1.010	0.97443	0.0112	0.02051		6
rs2864665	2:110900895	A/G	NPHP1	intron	1.000	1.02511	0.0112	0.02689		6
rs33958626	2:110959026	T/G	NPHP1	missense	0.662	0.96618	0.0337	0.3074		6
rs35810959	2:110958925	A/C	NPHP1	intron	0.662	0.96618	0.0337	0.3074		7
rs36086413	2:110959702	A/G	NPHP1	intron	1.000	0.97648	0.0112	0.03343		6
rs3789727	2:110907324	A/G	NPHP1	intron	0.941	1.04258	0.0138	0.002453		4
rs3789732	2:110905219	A/C	NPHP1	intron,near-gene-3	1.000	1.02450	0.0112	0.03023		7
rs3789733	2:110886356	A/G	NPHP1	intron	1.000	0.97434	0.0112	0.02021		6
rs3789735	2:110886142	A/G	NPHP1	intron	1.010	1.02603	0.0112	0.02146		7
rs3789736	2:110886048	C/G	NPHP1	intron	1.000	1.02573	0.0112	0.02313		7
rs3817140	2:110919041	A/G	NPHP1	intron	0.992	1.02552	0.0109	0.02001		6
rs4284881	2:110931486	T/C	NPHP1	intron	0.998	0.96841	0.0109	0.003364		2b
rs4353695	2:110900649	A/C	NPHP1	intron	1.000	0.97521	0.0112	0.02451		6
rs4368380	2:110900632	A/C	NPHP1	intron	1.000	1.02562	0.0112	0.0235		6
rs4953755	2:110913486	C/G	NPHP1	intron	1.000	1.02439	0.0112	0.03132		5
rs4953841	2:110895042	A/G	NPHP1	intron	0.939	1.02511	0.0119	0.03767		7
rs4953845	2:110946189	A/T	NPHP1	intron	0.998	1.02480	0.0112	0.02888		6
rs57912565	2:110897562	T/G	NPHP1	intron	1.010	1.02501	0.0112	0.02719		7
rs59965855	2:110900079	A/G	NPHP1	intron	0.999	0.97570	0.0112	0.02843		7
rs62160545	2:110892923	A/G	NPHP1	intron	0.932	0.97511	0.0121	0.03695		7
rs62160547	2:110908416	T/C	NPHP1	intron	0.999	0.97531	0.0112	0.02582		6
rs6707877	2:110944601	T/C	NPHP1	intron	0.998	0.97580	0.0112	0.02895		7
rs6711385	2:110947941	T/C	NPHP1	intron	0.970	1.04561	0.0264	0.09155		7
rs6714985	2:110956800	A/G	NPHP1	intron	0.973	1.04196	0.0263	0.1179		7
rs6744318	2:110929463	A/T	NPHP1	intron	0.979	1.04791	0.0272	0.0847		6
rs71425272	2:110911788	T/C	NPHP1	intron	0.665	0.97424	0.0345	0.4494		7
rs72826888	2:110884627	T/C	NPHP1	intron	0.990	1.02573	0.0113	0.02399		3a
rs72826897	2:110926458	A/G	NPHP1	intron	0.716	0.94667	0.0262	0.03659		7
rs72826898	2:110930294	C/G	NPHP1	intron	1.000	1.02655	0.0112	0.01956		5
rs72828803	2:110932675	T/G	NPHP1	intron	1.010	0.97404	0.0112	0.01875		7
rs7421614	2:110924368	T/C	NPHP1	intron	1.000	0.97395	0.0112	0.01863		1f
rs74882894	2:110908041	T/G	NPHP1	intron	0.974	1.04467	0.0273	0.1085		6
rs75593525	2:110893995	A/G	NPHP1	intron	0.996	0.97122	0.0113	0.00975		7
rs75663443	2:110896469	A/T	NPHP1	intron	0.728	0.94639	0.0490	0.2603		6
rs75894757	2:110959545	T/C	NPHP1	intron	0.778	0.97463	0.0373	0.4907		7
rs76413811	2:110939738	T/C	NPHP1	intron	0.978	0.95581	0.0271	0.09483		6
rs76740460	2:110886161	T/C	NPHP1	intron	0.682	0.98108	0.0467	0.6823		6
rs79311541	2:110899226	A/G	NPHP1	intron	0.811	0.99362	0.0331	0.8463		7
rs9326627	2:110958125	C/G	NPHP1	intron	0.977	1.04749	0.0266	0.08095		6
SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*

Note: RegulomeDB score^*

score	supporting data	score	supporting data
1a	eQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak	6	other
2a	TF binding + matched TF motif + matched DNase Footprint + DNase peak	5	TF binding or DNase peak
1b	eQTL + TF binding + any motif + DNase Footprint + DNase peak	4	TF binding + DNase peak
2b	TF binding + any motif + DNase Footprint + DNase peak	3b	TF binding + matched TF motif
1c	eQTL + TF binding + matched TF motif + DNase peak	1f	eQTL + TF binding / DNase peak
2c	TF binding + matched TF motif + DNase peak	3a	TF binding + any motif + DNase peak
1d	eQTL + TF binding + any motif + DNase peak	1e	eQTL + TF binding + matched TF motif

CNV Information

The gene is not affected by CNV!

eQTL Information