DisGeNET - a database of gene-disease associations

List of shared variants

Poor school performance, C1843367

Disease: Sunken eyes

Source: INFERRED ×

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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
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs724159949	LOC105372797 ; DYRK1A	0.827	0.240	21	37486563	stop gained	C/T	snv			15
rs1556914274	HUWE1	0.790	0.440	X	53537626	missense variant	G/A	snv			13
rs724159948	DYRK1A ; LOC105372797	1.000		21	37490273	stop gained	C/T	snv			7
rs724159953	DYRK1A	1.000		21	37505352	stop gained	C/T	snv			7
rs724159950	DYRK1A ; LOC105372797	1.000	0.200	21	37486571	frameshift variant	TGAG/GAA	delins			6
rs724159951	DYRK1A			21	37493101	missense variant	T/C	snv			6
rs724159952	LOC105372797 ; DYRK1A			21	37490451	frameshift variant	-/G	delins			6
rs724159954	DYRK1A ; LOC105372797			21	37490353	frameshift variant	-/A	delins			6
rs724159955	DYRK1A	1.000		21	37512002	missense variant	C/A	snv			6
rs724159956	DYRK1A			21	37496249	frameshift variant	-/G	delins			6