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
rs72547547	CHST6	1.000	0.080	16	75479633	missense variant	C/A;G	snv	4.0E-06		1
rs72547548	CHST6	1.000	0.080	16	75479647	missense variant	T/C;G	snv	4.0E-06		1
rs72547549	CHST6	1.000	0.080	16	75479738	missense variant	G/A	snv		1.4E-05	1
rs745571211	CHST6	1.000	0.080	16	75479200	missense variant	G/A	snv	1.2E-05	1.4E-05	1
rs750219546	CHST6	1.000	0.080	16	75479216	missense variant	G/A	snv	8.3E-06		1
rs758105699	CHST6	1.000	0.080	16	75479464	missense variant	T/G	snv	4.0E-06	3.5E-05	1
rs758259312	CHST6	1.000	0.080	16	75478844	missense variant	C/G;T	snv	4.0E-06		1
rs759870075	CHST6	1.000	0.080	16	75479218	missense variant	G/C;T	snv	8.3E-06		1
rs764372925	CHST6	1.000	0.080	16	75478719	synonymous variant	G/A;T	snv	4.0E-06		1
rs770962055	CHST6	1.000	0.080	16	75478754	missense variant	G/A;T	snv	2.4E-05		1
rs771397083	CHST6	1.000	0.080	16	75479197	missense variant	C/T	snv	4.2E-06	7.0E-06	1
rs775742450	CHST6	1.000	0.080	16	75479627	missense variant	A/G	snv	8.0E-06		1
rs886052321	CHST6	1.000	0.080	16	75478937	stop gained	G/A	snv	1.6E-05		1
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
rs763075517	CHST6	0.882	0.080	16	75479311	missense variant	A/G	snv	1.6E-05	7.0E-06	3