DisGeNET - a database of gene-disease associations

List of shared variants

Microcephaly (physical finding), C4551563

Disease: Clinodactyly of the 5th finger

Source: CLINVAR ×

Results per page

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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			34
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs1555429629	RAD51	0.763	0.200	15	40729632	missense variant	G/A	snv			23
rs786200952	KAT6A	0.851	0.120	8	41934340	frameshift variant	-/T	delins			13
rs1554297905	RALA	0.882	0.160	7	39686740	missense variant	G/A	snv			6