DisGeNET - a database of gene-disease associations

List of associated variants

TARSAL-CARPAL COALITION SYNDROME, C1861305

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs4925	GSTO1	0.677	0.560	10	104263031	missense variant	C/A	snv	0.25	0.23	28
rs156697	GSTO2	0.672	0.560	10	104279427	missense variant	A/G;T	snv	0.35		25
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22
rs104894602	NOG	0.925	0.080	17	56594888	missense variant	A/G	snv			2
rs104894611	NOG	0.925	0.080	17	56594327	missense variant	C/G;T	snv			2
rs104894610	NOG	1.000	0.080	17	56594834	missense variant	G/A;T	snv			1