DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Retinitis Pigmentosa ×

Variants associated to the Gene: IMPDH1 ×

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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
rs1057518949	IMPDH1	1.000	0.080	7	128398560	missense variant	T/G	snv			1
rs121912550	IMPDH1	0.827	0.120	7	128398557	missense variant	C/T	snv	4.0E-06		1
rs121912552	IMPDH1	0.882	0.080	7	128398562	missense variant	C/G	snv			1