DisGeNET - a database of gene-disease associations

Disease: Abdominal Pain

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	Num. diseases
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02	43
rs1555206402	HMBS	0.790	0.320	11	119093274	stop lost	GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-	delins		26
rs1057518886	HMBS			11	119090043	frameshift variant	C/-	delins		5