rs397517149

Orientation

minus

Stabilized

minus

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

Make rs397517149(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39022786

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs397517149
dbSNP (classic)	rs397517149
ClinGen	rs397517149
ebi	rs397517149
HLI	rs397517149
Exac	rs397517149
Gnomad	rs397517149
Varsome	rs397517149
LitVar	rs397517149
Map	rs397517149
PheGenI	rs397517149
Biobank	rs397517149
1000 genomes	rs397517149
hgdp	rs397517149
ensembl	rs397517149
geneview	rs397517149
scholar	rs397517149
google	rs397517149
pharmgkb	rs397517149
gwascentral	rs397517149
openSNP	rs397517149
23andMe	rs397517149
SNPshot	rs397517149
SNPdbe	rs397517149
MSV3d	rs397517149
GWAS Ctlg	rs397517149

Max Magnitude

7

aka c.1642A>C (p.Ser548Arg)

ClinVar
Risk	rs397517149(C;C)
Alt	rs397517149(C;C)
Reference	Rs397517149(A;A)
Significance	Pathogenic
Disease	Noonan syndrome not provided
Variation	info
Gene	SOS1
CLNDBN	Noonan syndrome not provided
Reversed	1
HGVS	NC_000002.11:g.39249927T>G
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000038515.2, RCV000153986.6,