DisGeNET - a database of gene-disease associations

List of associated variants

Hammer Toe, C1136179

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
rs864321670	ALDH18A1	0.763	0.320	10	95633012	missense variant	C/T	snv			24
rs181109321	TTPA	0.776	0.320	8	63065904	splice region variant	C/A;T	snv	2.0E-05		17
rs137854461	FBN1	0.790	0.280	15	48437026	missense variant	T/C	snv			12
rs113812345	FBN1	0.790	0.160	15	48513591	stop gained	G/A	snv			10
rs761857514	FBN1	0.851	0.240	15	48452676	stop gained	C/A;T	snv	4.0E-06		8
rs1057518780	GJB1	0.882	0.200	X	71224209	missense variant	T/G	snv			8
rs1057518946	GJB1	0.882	0.080	X	71223816	missense variant	G/T	snv			8
rs1057518943	IGHMBP2	1.000	0.120	11	68906163	missense variant	G/A;C	snv	8.0E-06		5
rs879253979	DYNC1H1	0.925	0.120	14	101979951	missense variant	C/G;T	snv			4
rs773690764	IGHMBP2			11	68917781	stop gained	C/T	snv	4.0E-06	1.4E-05	4
rs25640	HSD17B4			5	119475838	missense variant	G/A;C	snv	0.45		2