rs397517150

Orientation

minus

Stabilized

minus

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

Make rs397517150(C;C)

Make rs397517150(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39023118

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs397517150
dbSNP (classic)	rs397517150
ClinGen	rs397517150
ebi	rs397517150
HLI	rs397517150
Exac	rs397517150
Gnomad	rs397517150
Varsome	rs397517150
LitVar	rs397517150
Map	rs397517150
PheGenI	rs397517150
Biobank	rs397517150
1000 genomes	rs397517150
hgdp	rs397517150
ensembl	rs397517150
geneview	rs397517150
scholar	rs397517150
google	rs397517150
pharmgkb	rs397517150
gwascentral	rs397517150
openSNP	rs397517150
23andMe	rs397517150
SNPshot	rs397517150
SNPdbe	rs397517150
MSV3d	rs397517150
GWAS Ctlg	rs397517150

Max Magnitude

0

ClinVar
Risk	rs397517150(C;C) rs397517150(G;G)
Alt	rs397517150(C;C) rs397517150(G;G)
Reference	Rs397517150(T;T)
Significance	Pathogenic
Disease	not provided Noonan syndrome Rasopathy
Variation	info
Gene	SOS1
CLNDBN	not provided Noonan syndrome Rasopathy
Reversed	1
HGVS	NC_000002.11:g.39250259A>C; NC_000002.11:g.39250259A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000159165.1, RCV000038516.4, RCV000159164.2, RCV000474085.1,