DisGeNET - a database of gene-disease associations

List of associated variants

early pregnancy, C0747845

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs2228611	DNMT1	0.708	0.520	19	10156401	synonymous variant	T/A;C	snv	0.52		19
rs1569686	DNMT3B	0.752	0.400	20	32779273	intron variant	G/A;C;T	snv			15
rs117106081	PROKR2	1.000		20	5302204	missense variant	C/T	snv	6.2E-03; 8.0E-06	1.6E-03	2
rs34715748	APLF ; PROKR1			2	68655529	missense variant	A/G	snv	4.5E-02	3.2E-02	1
rs1421868342	PROKR1 ; APLF			2	68655388	missense variant	A/G	snv			1