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
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs200215055	FCGR3B	0.742	0.400	1	161626196	missense variant	C/A;G;T	snv	1.5E-03; 1.2E-05; 4.0E-06		11
rs7528947	RGS21	1.000	0.080	1	192366662	3 prime UTR variant	A/C;G;T	snv			1
rs10208293	IL1RL1 ; IL18R1	0.882	0.160	2	102349850	intron variant	G/A	snv		0.33	4
rs13431828	IL1RL1 ; IL18R1	0.925	0.160	2	102338193	5 prime UTR variant	C/T	snv		0.18	3
rs10204137	IL18R1 ; IL1RL1	0.925	0.160	2	102351752	missense variant	A/G;T	snv	0.34		2
rs2160203	IL1RL1 ; IL18R1	1.000	0.080	2	102344364	3 prime UTR variant	A/C;G	snv			2
rs4988957	IL1RL1 ; IL18R1	1.000	0.080	2	102351615	missense variant	T/C;G	snv	0.34; 4.0E-06	0.46	2
rs3810831	CD8A	1.000	0.080	2	86791424	5 prime UTR variant	A/G	snv		0.20	1
rs4532099	LINC00877	1.000	0.080	3	72266805	intron variant	T/C	snv		0.82	1
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
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
rs78311289	FGFR3	0.689	0.440	4	1806162	missense variant	A/C;G	snv	4.0E-06		25
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
rs28931615	FGFR3	0.732	0.240	4	1804426	missense variant	C/A;T	snv			13
rs771148519	WDR19	0.807	0.200	4	39225027	stop gained	C/G	snv	1.7E-05	1.4E-05	9
rs886043613	FGFR3	0.925	0.080	4	1801519	missense variant	C/T	snv			4
rs121913113	FGFR3	0.882	0.240	4	1806076	missense variant	G/A	snv			3
rs28928868	FGFR3	0.925	0.120	4	1806164	missense variant	G/C;T	snv	4.0E-06		2
rs397515514	FGFR3	0.925	0.080	4	1807261	stop lost	G/T	snv			2