rs397517164

Orientation

minus

Stabilized

minus

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

Make rs397517164(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39058696

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs397517164
dbSNP (classic)	rs397517164
ClinGen	rs397517164
ebi	rs397517164
HLI	rs397517164
Exac	rs397517164
Gnomad	rs397517164
Varsome	rs397517164
LitVar	rs397517164
Map	rs397517164
PheGenI	rs397517164
Biobank	rs397517164
1000 genomes	rs397517164
hgdp	rs397517164
ensembl	rs397517164
geneview	rs397517164
scholar	rs397517164
google	rs397517164
pharmgkb	rs397517164
gwascentral	rs397517164
openSNP	rs397517164
23andMe	rs397517164
SNPshot	rs397517164
SNPdbe	rs397517164
MSV3d	rs397517164
GWAS Ctlg	rs397517164

Max Magnitude

7

aka c.322G>A (p.Glu108Lys)

ClinVar
Risk	rs397517164(A;A)
Alt	rs397517164(A;A)
Reference	Rs397517164(G;G)
Significance	Pathogenic
Disease	Noonan syndrome not provided
Variation	info
Gene	SOS1
CLNDBN	Noonan syndrome not provided
Reversed	1
HGVS	NC_000002.11:g.39285837C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000038546.2, RCV000159144.2,