DisGeNET - a database of gene-disease associations

List of associated variants

Macular dystrophy, corneal type 1, C1636149

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs5742909	CTLA4	0.614	0.680	2	203867624	upstream gene variant	C/T	snv		6.7E-02	40
rs763075517	CHST6	0.882	0.080	16	75479311	missense variant	A/G	snv	1.6E-05	7.0E-06	3
rs587784505	TUBB3	0.882	0.160	16	89934743	missense variant	G/A	snv			3
rs886041459	TUBB3	0.925	0.080	16	89935140	missense variant	C/T	snv			3
rs28937879	CHST6	0.925	0.080	16	75479230	missense variant	A/C	snv	2.2E-04	2.2E-04	2
rs72547544	CHST6	0.925	0.080	16	75479500	missense variant	T/C	snv	4.0E-06	1.4E-05	2
rs752785520	CHST6	0.925	0.080	16	75479180	missense variant	C/T	snv	4.2E-06		2
rs119103229	HLCS	0.925	0.120	21	36765170	missense variant	G/A	snv	2.8E-05		2
rs57218384	KRT12 ; LOC105371777	0.925	0.080	17	40866783	missense variant	C/A;G	snv			2
rs58038639	KRT12 ; LOC105371777	0.925	0.080	17	40866778	missense variant	C/G	snv	4.0E-06		2
rs58162394	KRT12 ; LOC105371777	0.925	0.080	17	40863154	missense variant	A/C	snv			2
rs58343600	KRT12 ; LOC105371777	0.925	0.080	17	40866760	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		2
rs58918655	KRT12 ; LOC105371777	0.925	0.080	17	40866768	missense variant	A/C	snv			2
rs60410063	KRT3	0.925	0.080	12	52791233	missense variant	C/A;G;T	snv	4.0E-06; 1.2E-05		2
rs59202432	LOC105371777 ; KRT12	0.925	0.080	17	40863153	missense variant	T/C	snv			2
rs1158093021	CHST6	1.000	0.080	16	75479519	missense variant	T/C	snv		7.0E-06	1
rs117435647	CHST6	1.000	0.080	16	75479345	missense variant	G/C;T	snv	3.5E-02; 8.1E-06		1
rs121917822	CHST6	1.000	0.080	16	75479525	missense variant	A/C	snv	8.0E-06	2.8E-05	1
rs121917824	CHST6	1.000	0.080	16	75479002	missense variant	A/G	snv	5.7E-05	1.4E-05	1
rs1265310255	CHST6	1.000	0.080	16	75479466	missense variant	G/T	snv	8.0E-06		1
rs1384294258	CHST6	1.000	0.080	16	75478757	missense variant	A/G	snv	4.0E-06		1
rs142954809	CHST6	1.000	0.080	16	75479374	missense variant	A/C;G	snv	1.2E-05		1
rs202175444	CHST6	1.000	0.080	16	75479198	missense variant	G/A	snv	4.1E-06		1
rs28937877	CHST6	1.000	0.080	16	75479308	missense variant	T/C	snv			1