DisGeNET - a database of gene-disease associations

List of associated variants

Ulnar deviation of the wrist, C0231678

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
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs121908188	SELENON	0.742	0.360	1	25809753	missense variant	G/A;C	snv	1.8E-04		25
rs199564797	SELENON	0.742	0.360	1	25809150	missense variant	G/A	snv	1.2E-05	1.4E-05	25
rs745886248	SELENON	0.742	0.360	1	25811710	missense variant	G/A;C;T	snv	4.3E-06; 4.3E-06; 4.3E-06		25
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs104894312	TNNI2 ; LOC107984299	0.851	0.080	11	1841468	stop gained	C/T	snv			5
rs1554289078	KLHL7	0.925	0.080	7	23140945	splice donor variant	G/A	snv			3
rs1554293056	KLHL7			7	23167854	stop gained	T/A	snv			1
rs1554293083	KLHL7			7	23167948	frameshift variant	C/-	delins			1