DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF GENOME	Num. diseases
rs117549504	SRRM2-AS1	16	2747160	intron variant	C/T	snv	1.6E-02	1
rs181179291	SRRM2-AS1	16	2737061	downstream gene variant	A/C	snv	7.0E-03	1
rs3112681	SRRM2 ; SRRM2-AS1	16	2753955	intron variant	C/A;G;T	snv	0.98	1