rs121434594

Orientation

minus

Stabilized

minus

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

Make rs121434594(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

12604189

Gene

RAF1

is a	snp
is	mentioned by
dbSNP	rs121434594
dbSNP (classic)	rs121434594
ClinGen	rs121434594
ebi	rs121434594
HLI	rs121434594
Exac	rs121434594
Gnomad	rs121434594
Varsome	rs121434594
LitVar	rs121434594
Map	rs121434594
PheGenI	rs121434594
Biobank	rs121434594
1000 genomes	rs121434594
hgdp	rs121434594
ensembl	rs121434594
geneview	rs121434594
scholar	rs121434594
google	rs121434594
pharmgkb	rs121434594
gwascentral	rs121434594
openSNP	rs121434594
23andMe	rs121434594
SNPshot	rs121434594
SNPdbe	rs121434594
MSV3d	rs121434594
GWAS Ctlg	rs121434594

Max Magnitude

7

aka c.781C>T (p.Pro261Ser)

23andMe name: i5008105

OMIM	164760
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434594(A;A) rs121434594(G;G) rs121434594(T;T)
Alt	rs121434594(A;A) rs121434594(G;G) rs121434594(T;T)
Reference	Rs121434594(C;C)
Significance	Other
Disease	Noonan syndrome 5 not provided Primary familial hypertrophic cardiomyopathy Noonan syndrome Rasopathy
Variation	info
Gene	RAF1
CLNDBN	Noonan syndrome 5 not provided Primary familial hypertrophic cardiomyopathy Noonan syndrome Rasopathy
Reversed	1
HGVS	NC_000003.11:g.12645688G>A; NC_000003.11:g.12645688G>C; NC_000003.11:g.12645688G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014987.27, RCV000159076.2, RCV000208421.1, RCV000211849.2, RCV000468714.1, RCV000037704.4, RCV000208199.1, RCV000211848.2, RCV000354359.1, RCV000037703.2, RCV000149827.1,