rs397517159

Orientation

minus

Stabilized

minus

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

Make rs397517159(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39007168

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs397517159
dbSNP (classic)	rs397517159
ClinGen	rs397517159
ebi	rs397517159
HLI	rs397517159
Exac	rs397517159
Gnomad	rs397517159
Varsome	rs397517159
LitVar	rs397517159
Map	rs397517159
PheGenI	rs397517159
Biobank	rs397517159
1000 genomes	rs397517159
hgdp	rs397517159
ensembl	rs397517159
geneview	rs397517159
scholar	rs397517159
google	rs397517159
pharmgkb	rs397517159
gwascentral	rs397517159
openSNP	rs397517159
23andMe	rs397517159
SNPshot	rs397517159
SNPdbe	rs397517159
MSV3d	rs397517159
GWAS Ctlg	rs397517159

Max Magnitude

7

aka c.2536G>A (p.Glu846Lys)

ClinVar
Risk	rs397517159(A;A)
Alt	rs397517159(A;A)
Reference	Rs397517159(G;G)
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.39234309C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000038535.2, RCV000207492.2, RCV000471633.1,