rs397517147

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs397517147(A;A)

Make rs397517147(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39023131

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs397517147
dbSNP (classic)	rs397517147
ClinGen	rs397517147
ebi	rs397517147
HLI	rs397517147
Exac	rs397517147
Gnomad	rs397517147
Varsome	rs397517147
LitVar	rs397517147
Map	rs397517147
PheGenI	rs397517147
Biobank	rs397517147
1000 genomes	rs397517147
hgdp	rs397517147
ensembl	rs397517147
geneview	rs397517147
scholar	rs397517147
google	rs397517147
pharmgkb	rs397517147
gwascentral	rs397517147
openSNP	rs397517147
23andMe	rs397517147
SNPshot	rs397517147
SNPdbe	rs397517147
MSV3d	rs397517147
GWAS Ctlg	rs397517147

Max Magnitude

0

ClinVar
Risk	rs397517147(A;A)
Alt	rs397517147(A;A)
Reference	Rs397517147(G;G)
Significance	Pathogenic
Disease	Noonan syndrome not provided Rasopathy
Variation	info
Gene	SOS1
CLNDBN	Noonan syndrome not provided Rasopathy
Reversed	1
HGVS	NC_000002.11:g.39250272C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000038513.2, RCV000157692.2, RCV000467110.1,