rs137852813

Orientation

minus

Stabilized

minus

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

Make rs137852813(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39051202

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs137852813
dbSNP (classic)	rs137852813
ClinGen	rs137852813
ebi	rs137852813
HLI	rs137852813
Exac	rs137852813
Gnomad	rs137852813
Varsome	rs137852813
LitVar	rs137852813
Map	rs137852813
PheGenI	rs137852813
Biobank	rs137852813
1000 genomes	rs137852813
hgdp	rs137852813
ensembl	rs137852813
geneview	rs137852813
scholar	rs137852813
google	rs137852813
pharmgkb	rs137852813
gwascentral	rs137852813
openSNP	rs137852813
23andMe	rs137852813
SNPshot	rs137852813
SNPdbe	rs137852813
MSV3d	rs137852813
GWAS Ctlg	rs137852813

Max Magnitude

7

aka c.806T>C (p.Met269Thr), and also, c.806T>G (p.Met269Arg)

23andMe tests c.806T>G as: i5002469

OMIM	182530
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852813(C;C) rs137852813(G;G)
Alt	rs137852813(C;C) rs137852813(G;G)
Reference	Rs137852813(T;T)
Significance	Pathogenic
Disease	Noonan syndrome 4 not provided Noonan syndrome
Variation	info
Gene	SOS1
CLNDBN	Noonan syndrome 4 not provided Noonan syndrome
Reversed	1
HGVS	NC_000002.11:g.39278343A>C; NC_000002.11:g.39278343A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013730.23, RCV000157691.3, RCV000211854.1, RCV000157690.3, RCV000208414.2, RCV000487454.1,