rs137852814

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	7	Noonan syndrome

Make rs137852814(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39022774

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs137852814
dbSNP (classic)	rs137852814
ClinGen	rs137852814
ebi	rs137852814
HLI	rs137852814
Exac	rs137852814
Gnomad	rs137852814
Varsome	rs137852814
LitVar	rs137852814
Map	rs137852814
PheGenI	rs137852814
Biobank	rs137852814
1000 genomes	rs137852814
hgdp	rs137852814
ensembl	rs137852814
geneview	rs137852814
scholar	rs137852814
google	rs137852814
pharmgkb	rs137852814
gwascentral	rs137852814
openSNP	rs137852814
23andMe	rs137852814
SNPshot	rs137852814
SNPdbe	rs137852814
MSV3d	rs137852814
GWAS Ctlg	rs137852814

Max Magnitude

7

aka c.1654A>G (p.Arg552Gly)

23andMe name: i5002468

OMIM	182530
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137852814(G;G) rs137852814(T;T)
Alt	rs137852814(G;G) rs137852814(T;T)
Reference	Rs137852814(A;A)
Significance	Pathogenic
Disease	not provided Noonan syndrome 4 Noonan syndrome Rasopathy
Variation	info
Gene	SOS1
CLNDBN	not provided Noonan syndrome 4 Noonan syndrome Rasopathy
Reversed	1
HGVS	NC_000002.11:g.39249915T>A; NC_000002.11:g.39249915T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000414145.1, RCV000013731.18, RCV000156980.1, RCV000157693.3, RCV000159174.5,