DisGeNET - a database of gene-disease associations

List of shared variants

Noonan Syndrome, C0028326

Disease: Noonan Syndrome 4

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
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27
rs137852814	SOS1	0.752	0.240	2	39022774	missense variant	T/A;C	snv	4.0E-06		16
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		16
rs267607079	SOS1	0.776	0.240	2	39022772	missense variant	C/A;G	snv			13
rs137852813	SOS1	0.807	0.200	2	39051202	missense variant	A/C;G	snv			11
rs397517150	SOS1	0.827	0.160	2	39023118	missense variant	A/C;G	snv			7
rs137852812	SOS1	0.851	0.200	2	39051211	missense variant	G/T	snv			4
rs397517149	SOS1	0.851	0.200	2	39022786	missense variant	T/G	snv			4
rs397517156	SOS1	0.851	0.200	2	39012333	missense variant	T/A	snv			4
rs397517159	SOS1	0.882	0.200	2	39007168	missense variant	C/T	snv			4
rs397517147	SOS1	0.882	0.200	2	39023131	missense variant	C/T	snv	4.0E-06		3
rs397517172	SOS1	0.925	0.160	2	39056704	missense variant	T/C	snv			3
rs267607080	SOS1	0.925	0.160	2	39023134	missense variant	A/G	snv			2
rs397517153	SOS1	0.925	0.160	2	39022779	missense variant	A/C;G	snv	4.0E-06		2
rs397517164	SOS1	0.925	0.160	2	39058696	missense variant	C/T	snv			2
rs397517166	SOS1	0.925	0.160	2	39058683	missense variant	G/C	snv			2
rs397517180	SOS1	0.925	0.160	2	39035440	missense variant	C/A	snv			2
rs727504295	SOS1	0.925	0.160	2	39023106	missense variant	C/T	snv			2