DisGeNET - a database of gene-disease associations

List of associated variants

Congenital Epicanthus, C0678230

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	Num. diseases
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv		54
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06	49
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv		44
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins		43
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06	42
rs886039469	KCNMA1-AS1 ; KCNMA1	0.701	0.560	10	76891709	missense variant	T/C	snv		35
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv		34
rs1331463984	TRAF7	0.701	0.240	16	2176350	missense variant	G/A	snv		33
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv		27
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv		26
rs1064796765	DYNC1H1	0.763	0.240	14	102002950	missense variant	G/A	snv		19
rs1564421528	WAC	0.882	0.080	10	28614666	stop gained	C/T	snv		16
rs1554110735	TFAP2A	0.776	0.200	6	10398693	frameshift variant	TT/-	delins		13
rs200426926	THOC6 ; BICDL2	0.776	0.400	16	3027379	missense variant	G/A;T	snv	1.8E-04; 4.0E-06	13
rs199473457	KCNQ1	0.827	0.200	11	2572020	missense variant	C/A;T	snv		12
rs1131692229	KIDINS220	0.851	0.120	2	8730956	frameshift variant	GT/-	delins		11
rs1563005360	FLNC-AS1 ; FLNC	0.807	0.120	7	128857103	splice acceptor variant	ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG	delins		11
rs1567010427	DYNC1H1	0.882		14	102010824	missense variant	G/A	snv		11
rs886041095	GRIN2B	0.827	0.160	12	13571930	missense variant	C/T	snv		11
rs1114167291	ANKRD11	0.790	0.280	16	89281225	stop gained	C/A	snv		10
rs1554844486	KAT6B	0.827	0.160	10	75024984	frameshift variant	GGGT/-	del		10
rs1057516044	ABCC9	0.851	0.240	12	21913005	missense variant	A/G	snv		9
rs1057516049	KAT6A	0.851	0.040	8	41933963	frameshift variant	CACT/-	delins		7
rs1057518864	TCF4	0.925		18	55350409	splice acceptor variant	C/T	snv		7
rs1554902217	TPP1	0.851	0.160	11	6618821	frameshift variant	A/-	del		7