DisGeNET - a database of gene-disease associations

List of associated variants

Mild short stature, C3150077

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
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs1555630216	PIEZO2	0.790	0.160	18	10714931	splice acceptor variant	C/T	snv			22
rs1555648288	PIEZO2	0.790	0.160	18	10795003	splice acceptor variant	C/T	snv			22
rs1555043939	KMT2A	0.851	0.240	11	118496323	frameshift variant	-/G	delins			9
rs886041239	SMC3	1.000	0.160	10	110593202	missense variant	A/G	snv			9
rs1553403917	ALMS1	0.807	0.320	2	73451171	frameshift variant	-/A	delins			7
rs1555548678	STAT5B	0.925	0.160	17	42216054	missense variant	G/A	snv			7
rs1256028809	RTTN	1.000		18	70030114	splice region variant	A/T	snv	4.0E-06		5