DisGeNET - a database of gene-disease associations

List of shared variants

Acid reflux, C4317146

Disease: Small for gestational age (disorder)

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
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			50
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs1563183492	AUTS2	0.708	0.520	7	70766248	missense variant	C/T	snv			32
rs151344517	LOC107985154 ; AFG3L2 ; TUBB6	0.742	0.320	18	12337505	missense variant	C/T	snv			31
rs559979281	CLASP1 ; RNU4ATAC ; LOC107985942	0.742	0.440	2	121530892	non coding transcript exon variant	C/G;T	snv	7.7E-06; 2.3E-05; 3.5E-04		23
rs863225422	RNU4ATAC ; CLASP1 ; LOC107985942	0.742	0.440	2	121530927	non coding transcript exon variant	G/A	snv	4.6E-05; 7.7E-06	4.9E-05	23
rs141322087	ABCC8	0.851	0.160	11	17404552	missense variant	C/T	snv	1.2E-05	2.1E-05	13
rs1344172059	ABCC8	0.882	0.080	11	17430838	missense variant	C/T	snv		7.0E-06	12