rs267607080

Orientation

minus

Stabilized

minus

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

Make rs267607080(C;C)

Make rs267607080(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

39023134

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs267607080
dbSNP (classic)	rs267607080
ClinGen	rs267607080
ebi	rs267607080
HLI	rs267607080
Exac	rs267607080
Gnomad	rs267607080
Varsome	rs267607080
LitVar	rs267607080
Map	rs267607080
PheGenI	rs267607080
Biobank	rs267607080
1000 genomes	rs267607080
hgdp	rs267607080
ensembl	rs267607080
geneview	rs267607080
scholar	rs267607080
google	rs267607080
pharmgkb	rs267607080
gwascentral	rs267607080
openSNP	rs267607080
23andMe	rs267607080
SNPshot	rs267607080
SNPdbe	rs267607080
MSV3d	rs267607080
GWAS Ctlg	rs267607080

Max Magnitude

0

ClinVar
Risk	rs267607080(C;C)
Alt	rs267607080(C;C)
Reference	Rs267607080(T;T)
Significance	Pathogenic
Disease	Noonan syndrome 4 not provided Noonan syndrome
Variation	info
Gene	SOS1
CLNDBN	Noonan syndrome 4 not provided Noonan syndrome
Reversed	1
HGVS	NC_000002.11:g.39250275A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013733.25, RCV000159161.2, RCV000211853.1,