DisGeNET - a database of gene-disease associations

List of shared variants

Femoral bowing, C1859461

Disease: Short ribs

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
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			45
rs137853027	DYNC2H1	0.827	0.120	11	103220720	missense variant	A/G	snv	2.4E-04	2.6E-04	15
rs1260978141	DYNC2H1	1.000	0.120	11	103125293	stop gained	C/T	snv	4.5E-06		8
rs1565311145	DYNC2H1	0.882	0.120	11	103116677	stop gained	T/A	snv			7
rs767846762	DYNC2H1	0.882	0.120	11	103176241	frameshift variant	AA/-	delins	1.0E-05		7
rs376892534	DYNC2H1	0.925	0.120	11	103184880	intron variant	G/A	snv	8.1E-06		6