DisGeNET - a database of gene-disease associations

List of associated variants

Neonatal insulin-dependent diabetes mellitus, C3278636

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
rs80356616	KCNJ11	0.732	0.360	11	17387917	missense variant	C/T	snv			19
rs80356624	KCNJ11	0.752	0.240	11	17387490	missense variant	C/A;T	snv			16
rs193929356	KCNJ11	0.925	0.080	11	17387103	missense variant	T/A;C	snv			4
rs587783670	KCNJ11			11	17387571	missense variant	G/C;T	snv			1
rs587783671	KCNJ11			11	17387556	missense variant	T/G	snv			1
rs587783674	KCNJ11			11	17388084	missense variant	G/C	snv			1