DisGeNET - a database of gene-disease associations

List of associated variants

Abnormality of the pinna, C0857379

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
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv			44
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			31
rs121918494	FGFR2	0.790	0.160	10	121517363	missense variant	G/C	snv			25
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs1553284997	DIPK1A ; RPL5	0.790	0.400	1	92833544	splice acceptor variant	G/C	snv			17
rs864309488	GMNN	0.776	0.440	6	24777296	missense variant	A/G	snv			14
rs376754460	PMM2	0.807	0.280	16	8801859	missense variant	G/A;C;T	snv	8.0E-06		12
rs376103091	EARS2	0.851	0.200	16	23544677	missense variant	G/A	snv	1.5E-04	2.0E-04	10