rs727505017

Orientation

minus

Stabilized

minus

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

Make rs727505017(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

12604201

Gene

RAF1

is a	snp
is	mentioned by
dbSNP	rs727505017
dbSNP (classic)	rs727505017
ClinGen	rs727505017
ebi	rs727505017
HLI	rs727505017
Exac	rs727505017
Gnomad	rs727505017
Varsome	rs727505017
LitVar	rs727505017
Map	rs727505017
PheGenI	rs727505017
Biobank	rs727505017
1000 genomes	rs727505017
hgdp	rs727505017
ensembl	rs727505017
geneview	rs727505017
scholar	rs727505017
google	rs727505017
pharmgkb	rs727505017
gwascentral	rs727505017
openSNP	rs727505017
23andMe	rs727505017
SNPshot	rs727505017
SNPdbe	rs727505017
MSV3d	rs727505017
GWAS Ctlg	rs727505017

Max Magnitude

7

aka c.769T>C (p.Ser257Pro)

ClinVar
Risk	rs727505017(C;C)
Alt	rs727505017(C;C)
Reference	Rs727505017(T;T)
Significance	Pathogenic
Disease	Noonan syndrome not provided Primary familial hypertrophic cardiomyopathy Malignant melanoma
Variation	info
Gene	RAF1
CLNDBN	Noonan syndrome not provided Primary familial hypertrophic cardiomyopathy Malignant melanoma
Reversed	1
HGVS	NC_000003.11:g.12645700A>G
CLNSRC
CLNACC	RCV000156441.2, RCV000159073.1, RCV000208439.1, RCV000426760.1,