rs397517148

Orientation

minus

Stabilized

minus

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

Make rs397517148(A;A)

Make rs397517148(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39023128

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs397517148
dbSNP (classic)	rs397517148
ClinGen	rs397517148
ebi	rs397517148
HLI	rs397517148
Exac	rs397517148
Gnomad	rs397517148
Varsome	rs397517148
LitVar	rs397517148
Map	rs397517148
PheGenI	rs397517148
Biobank	rs397517148
1000 genomes	rs397517148
hgdp	rs397517148
ensembl	rs397517148
geneview	rs397517148
scholar	rs397517148
google	rs397517148
pharmgkb	rs397517148
gwascentral	rs397517148
openSNP	rs397517148
23andMe	rs397517148
SNPshot	rs397517148
SNPdbe	rs397517148
MSV3d	rs397517148
GWAS Ctlg	rs397517148

Max Magnitude

0

ClinVar
Risk	rs397517148(A;A)
Alt	rs397517148(A;A)
Reference	Rs397517148(G;G)
Significance	Pathogenic
Disease	Noonan syndrome
Variation	info
Gene	SOS1
CLNDBN	Noonan syndrome
Reversed	1
HGVS	NC_000002.11:g.39250269C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000038514.2,