rs397516826

Orientation

minus

Stabilized

minus

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

Make rs397516826(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

12604202

Gene

RAF1

is a	snp
is	mentioned by
dbSNP	rs397516826
dbSNP (classic)	rs397516826
ClinGen	rs397516826
ebi	rs397516826
HLI	rs397516826
Exac	rs397516826
Gnomad	rs397516826
Varsome	rs397516826
LitVar	rs397516826
Map	rs397516826
PheGenI	rs397516826
Biobank	rs397516826
1000 genomes	rs397516826
hgdp	rs397516826
ensembl	rs397516826
geneview	rs397516826
scholar	rs397516826
google	rs397516826
pharmgkb	rs397516826
gwascentral	rs397516826
openSNP	rs397516826
23andMe	rs397516826
SNPshot	rs397516826
SNPdbe	rs397516826
MSV3d	rs397516826
GWAS Ctlg	rs397516826

Max Magnitude

7

aka c.768G>T (p.Arg256Ser) and also c.768G>C (p.Arg256Ser)

ClinVar
Risk	rs397516826(C;C) rs397516826(T;T)
Alt	rs397516826(C;C) rs397516826(T;T)
Reference	Rs397516826(G;G)
Significance	Pathogenic
Disease	Noonan syndrome not provided
Variation	info
Gene	RAF1
CLNDBN	Noonan syndrome not provided
Reversed	1
HGVS	NC_000003.11:g.12645701C>A; NC_000003.11:g.12645701C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000037701.2, RCV000159072.2, RCV000037700.2,