DisGeNET - a database of gene-disease associations

List of associated variants

Craniosynostosis, C0010278

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
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
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
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		41
rs3804099	TLR2	0.627	0.680	4	153703504	synonymous variant	T/C	snv	0.40	0.48	40
rs3804100	TLR2	0.633	0.720	4	153704257	synonymous variant	T/C	snv	9.0E-02	6.7E-02	36
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05		31
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			30
rs28933068	FGFR3	0.645	0.560	4	1805644	missense variant	C/A;G;T	snv	1.6E-05		30
rs77543610	FGFR2	0.667	0.560	10	121520160	missense variant	G/C	snv			28
rs121918487	FGFR2	0.716	0.440	10	121517378	missense variant	C/A;G;T	snv			25
rs78311289	FGFR3	0.689	0.440	4	1806162	missense variant	A/C;G	snv	4.0E-06		25
rs1564919048	FGFR2	0.732	0.280	10	121520106	missense variant	C/A	snv			23
rs28931614	FGFR3	0.672	0.520	4	1804392	missense variant	G/A;C	snv			21
rs121913485	FGFR3	0.716	0.400	4	1804372	missense variant	A/G	snv			18
rs213950	CFTR-AS1 ; CFTR	0.716	0.320	7	117559479	missense variant	G/A	snv	0.47	0.57	16
rs75527207	CFTR	0.732	0.440	7	117587806	missense variant	G/A	snv	1.8E-04	3.0E-04	15
rs121918491	FGFR2	0.716	0.440	10	121517371	synonymous variant	C/T	snv	4.0E-06		15
rs1318358361	ARID1B	0.724	0.240	6	156778678	missense variant	C/G	snv		2.1E-05	13
rs374608214	FGFR2	0.742	0.160	10	121520010	missense variant	G/C	snv	4.0E-06	7.0E-06	13
rs28931615	FGFR3	0.732	0.240	4	1804426	missense variant	C/A;T	snv			13
rs786200952	KAT6A	0.851	0.120	8	41934340	frameshift variant	-/T	delins			13