DisGeNET - a database of gene-disease associations

List of associated variants

Anteverted nostril, C1840077

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
rs397516827	RAF1	0.882	0.160	3	12604194	missense variant	G/A;C;T	snv			9
rs912001256	SCN4A	0.851	0.240	17	63947062	stop gained	G/A	snv			17
rs121908557	SCN4A ; LOC105371858	0.752	0.280	17	63957514	missense variant	C/T	snv	8.2E-06	1.4E-05	23
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		16
rs1057518864	TCF4	0.925		18	55350409	splice acceptor variant	C/T	snv			7
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs1400419650	TRIP11	0.708	0.320	14	92005938	stop gained	C/A;T	snv	4.0E-06	1.4E-05	38
rs1555386022	TRIP11	0.708	0.320	14	92003418	splice donor variant	C/A	snv			38