DisGeNET - a database of gene-disease associations

List of shared variants

Short stature, C0349588

Disease: Growth delay

Source: CLINVAR ×

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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
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			35
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs1441937959	EFL1	0.763	0.280	15	82240555	missense variant	T/C	snv	8.2E-06		19
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv			18
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