rs397517166

Orientation

minus

Stabilized

minus

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

Make rs397517166(C;G)

Make rs397517166(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39058683

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs397517166
dbSNP (classic)	rs397517166
ClinGen	rs397517166
ebi	rs397517166
HLI	rs397517166
Exac	rs397517166
Gnomad	rs397517166
Varsome	rs397517166
LitVar	rs397517166
Map	rs397517166
PheGenI	rs397517166
Biobank	rs397517166
1000 genomes	rs397517166
hgdp	rs397517166
ensembl	rs397517166
geneview	rs397517166
scholar	rs397517166
google	rs397517166
pharmgkb	rs397517166
gwascentral	rs397517166
openSNP	rs397517166
23andMe	rs397517166
SNPshot	rs397517166
SNPdbe	rs397517166
MSV3d	rs397517166
GWAS Ctlg	rs397517166

Max Magnitude

0

ClinVar
Risk	rs397517166(G;G)
Alt	rs397517166(G;G)
Reference	Rs397517166(C;C)
Significance	Probable-Pathogenic
Disease	Noonan syndrome
Variation	info
Gene	SOS1
CLNDBN	Noonan syndrome
Reversed	1
HGVS	NC_000002.11:g.39285824G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000038549.2,