DisGeNET - a database of gene-disease associations

List of associated variants

Low anterior hairline, C1842366

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
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
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs587784347	PLA2G6	0.742	0.280	22	38113561	missense variant	G/A	snv	8.0E-06		38
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs80338945	GJB2	0.695	0.440	13	20189313	missense variant	A/G	snv	6.4E-04	6.4E-04	32
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27
rs1555731819	KMT2B	0.807	0.200	19	35729980	missense variant	G/T	snv			26
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs1555939456	RPS6KA3	0.851	0.200	X	20187956	missense variant	T/C	snv			21
rs1566785444	IRF2BPL	0.827	0.200	14	77025671	frameshift variant	C/-	delins			20
rs1558373252	LINC01248 ; SOX11	0.790	0.120	2	5693013	frameshift variant	T/-	delins			19
rs886041936	HDAC8	0.827	0.120	X	72495210	stop gained	G/A	snv			14
rs1057516030	LOC105372797 ; DYRK1A	0.807	0.280	21	37480785	stop gained	-/A	delins			14
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv			14