rs267607079

Orientation

minus

Stabilized

minus

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

Make rs267607079(C;C)

Make rs267607079(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39022772

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs267607079
dbSNP (classic)	rs267607079
ClinGen	rs267607079
ebi	rs267607079
HLI	rs267607079
Exac	rs267607079
Gnomad	rs267607079
Varsome	rs267607079
LitVar	rs267607079
Map	rs267607079
PheGenI	rs267607079
Biobank	rs267607079
1000 genomes	rs267607079
hgdp	rs267607079
ensembl	rs267607079
geneview	rs267607079
scholar	rs267607079
google	rs267607079
pharmgkb	rs267607079
gwascentral	rs267607079
openSNP	rs267607079
23andMe	rs267607079
SNPshot	rs267607079
SNPdbe	rs267607079
MSV3d	rs267607079
GWAS Ctlg	rs267607079

Max Magnitude

0

ClinVar
Risk	rs267607079(C;C) rs267607079(T;T)
Alt	rs267607079(C;C) rs267607079(T;T)
Reference	Rs267607079(G;G)
Significance	Pathogenic
Disease	Noonan syndrome Rasopathy not provided Noonan syndrome 4
Variation	info
Gene	SOS1
CLNDBN	Noonan syndrome Rasopathy not provided Noonan syndrome 4
Reversed	1
HGVS	NC_000002.11:g.39249913C>A; NC_000002.11:g.39249913C>G
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000038525.2, RCV000149832.3, RCV000213008.1, RCV000013732.25, RCV000156992.1, RCV000159177.2,