DisGeNET - a database of gene-disease associations

List of associated variants

Low posterior hairline, C1855728

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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs1557043622	SLC35A2	0.695	0.400	X	48909843	missense variant	C/A	snv			46
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27
rs886041936	HDAC8	0.827	0.120	X	72495210	stop gained	G/A	snv			14
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv			14
rs776720232	PGAP3	0.827	0.240	17	39673099	missense variant	T/C;G	snv	4.2E-06		10
rs793888540	TFAP2A-AS2 ; TFAP2A	0.851	0.080	6	10404623	missense variant	G/T	snv			9
rs1554642022	PUF60 ; SCRIB	0.851	0.200	8	143816981	stop gained	G/A	snv			8
rs793888541	TFAP2A-AS2 ; TFAP2A	0.807	0.120	6	10404631	missense variant	A/T	snv			7