DisGeNET - a database of gene-disease associations

List of associated variants

Amblyopia, C0002418

Source: CURATED ×

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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
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		62
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			27
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21
rs377274761	GALC	0.776	0.240	14	87968393	missense variant	C/T	snv	8.0E-06	2.8E-05	20
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		18
rs397507531	PTPN11	0.752	0.320	12	112473040	missense variant	T/C;G	snv			18
rs201431517	MTFMT	0.827	0.200	15	65021533	missense variant	G/A	snv	3.5E-04	5.7E-04	17
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs1554110735	TFAP2A	0.776	0.200	6	10398693	frameshift variant	TT/-	delins			13
rs77543610	FGFR2	0.667	0.560	10	121520160	missense variant	G/C	snv			12
rs113994152	TSEN54	0.790	0.160	17	75522000	missense variant	G/T	snv	9.0E-04	9.0E-04	9
rs202160208	GMPPB	0.827	0.160	3	49722056	missense variant	C/T	snv	2.9E-04	1.8E-04	8
rs397509426	GMPPB	0.882	0.080	3	49723632	missense variant	G/A	snv	8.0E-05	7.0E-06	7
rs1085307139	SCRIB ; PUF60	0.925	0.040	8	143817380	frameshift variant	-/C	delins			5
rs1057518829	CACNA1F	1.000	0.040	X	49230343	stop gained	T/A	snv			2
rs116450688				6	32748350	downstream gene variant	A/G	snv			1