DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Diabetes Mellitus, Non-Insulin-Dependent ×

Variants associated to the Gene: ENPP1 ×

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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
rs1044498	ENPP1	0.752	0.360	6	131851228	missense variant	A/C;G	snv	0.19		15
rs997509	ENPP1	0.827	0.200	6	131846837	intron variant	C/T	snv		5.3E-02	6
rs1799774	ENPP1	0.882	0.200	6	131882331	intron variant	T/-	delins			3
rs7754561	ENPP1	0.882	0.200	6	131891554	3 prime UTR variant	A/G	snv		0.44	3
rs943003	ENPP1	0.882	0.120	6	131819872	non coding transcript exon variant	C/T	snv		0.64	3
rs2021966	ENPP1	1.000	0.080	6	131829299	intron variant	A/G	snv		0.42	2
rs55725924	ENPP1	1.000	0.080	6	131894348	3 prime UTR variant	T/A;C	snv			1
rs7754586	ENPP1	1.000	0.080	6	131891602	3 prime UTR variant	A/C	snv		0.30	1