rs137852812

Orientation

minus

Stabilized

minus

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

Make rs137852812(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39051211

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs137852812
dbSNP (classic)	rs137852812
ClinGen	rs137852812
ebi	rs137852812
HLI	rs137852812
Exac	rs137852812
Gnomad	rs137852812
Varsome	rs137852812
LitVar	rs137852812
Map	rs137852812
PheGenI	rs137852812
Biobank	rs137852812
1000 genomes	rs137852812
hgdp	rs137852812
ensembl	rs137852812
geneview	rs137852812
scholar	rs137852812
google	rs137852812
pharmgkb	rs137852812
gwascentral	rs137852812
openSNP	rs137852812
23andMe	rs137852812
SNPshot	rs137852812
SNPdbe	rs137852812
MSV3d	rs137852812
GWAS Ctlg	rs137852812

Max Magnitude

7

aka c.797C>A (p.Thr266Lys)

OMIM	182530
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852812(A;A)
Alt	rs137852812(A;A)
Reference	Rs137852812(C;C)
Significance	Pathogenic
Disease	Noonan syndrome 4 Noonan syndrome Rasopathy not provided
Variation	info
Gene	SOS1
CLNDBN	Noonan syndrome 4 Noonan syndrome Rasopathy not provided
Reversed	1
HGVS	NC_000002.11:g.39278352G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013729.25, RCV000038570.3, RCV000149833.3, RCV000213007.1,