DisGeNET - a database of gene-disease associations

List of associated variants

Postnatal growth retardation, C1859778

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
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		23
rs863225045	ALDH18A1	0.790	0.360	10	95637327	missense variant	C/A;T	snv			15
rs121918456	PTPN11	0.752	0.280	12	112473023	missense variant	A/C;G	snv			13
rs139751598	PYCR1	0.851	0.240	17	81934931	missense variant	C/T	snv	2.4E-05	4.2E-05	13
rs1553196101	CDC42	0.925	0.080	1	22086507	missense variant	T/C	snv			8
rs397507539	PTPN11	0.851	0.160	12	112489047	missense variant	C/A;G;T	snv	4.0E-06		8
rs1553196134	CDC42	0.925	0.080	1	22086856	missense variant	C/T	snv			6
rs1553196096	CDC42			1	22086463	missense variant	G/A	snv			5