rs397517172

Orientation

minus

Stabilized

minus

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

Make rs397517172(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39056704

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs397517172
dbSNP (classic)	rs397517172
ClinGen	rs397517172
ebi	rs397517172
HLI	rs397517172
Exac	rs397517172
Gnomad	rs397517172
Varsome	rs397517172
LitVar	rs397517172
Map	rs397517172
PheGenI	rs397517172
Biobank	rs397517172
1000 genomes	rs397517172
hgdp	rs397517172
ensembl	rs397517172
geneview	rs397517172
scholar	rs397517172
google	rs397517172
pharmgkb	rs397517172
gwascentral	rs397517172
openSNP	rs397517172
23andMe	rs397517172
SNPshot	rs397517172
SNPdbe	rs397517172
MSV3d	rs397517172
GWAS Ctlg	rs397517172

Max Magnitude

7

aka c.508A>G (p.Lys170Glu)

ClinVar
Risk	rs397517172(G;G)
Alt	rs397517172(G;G)
Reference	Rs397517172(A;A)
Significance	Pathogenic
Disease	Noonan syndrome not provided Rasopathy
Variation	info
Gene	SOS1
CLNDBN	Noonan syndrome not provided Rasopathy
Reversed	1
HGVS	NC_000002.11:g.39283845T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000038560.3, RCV000157689.2, RCV000476014.1,