rs397517154

Orientation

minus

Stabilized

minus

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

Make rs397517154(A;A)

Make rs397517154(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39022773

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs397517154
dbSNP (classic)	rs397517154
ClinGen	rs397517154
ebi	rs397517154
HLI	rs397517154
Exac	rs397517154
Gnomad	rs397517154
Varsome	rs397517154
LitVar	rs397517154
Map	rs397517154
PheGenI	rs397517154
Biobank	rs397517154
1000 genomes	rs397517154
hgdp	rs397517154
ensembl	rs397517154
geneview	rs397517154
scholar	rs397517154
google	rs397517154
pharmgkb	rs397517154
gwascentral	rs397517154
openSNP	rs397517154
23andMe	rs397517154
SNPshot	rs397517154
SNPdbe	rs397517154
MSV3d	rs397517154
GWAS Ctlg	rs397517154

Max Magnitude

0

ClinVar
Risk	rs397517154(A;A) rs397517154(C;C) rs397517154(T;T)
Alt	rs397517154(A;A) rs397517154(C;C) rs397517154(T;T)
Reference	Rs397517154(G;G)
Significance	Pathogenic
Disease	not provided Noonan syndrome Noonan syndrome 4
Variation	info
Gene	SOS1
CLNDBN	not provided Noonan syndrome Noonan syndrome 4
Reversed	1
HGVS	NC_000002.11:g.39249914C>A; NC_000002.11:g.39249914C>G; NC_000002.11:g.39249914C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000484403.1, RCV000159176.3, RCV000208093.2, RCV000157017.2, RCV000159175.1, RCV000271946.1,