rs397516813

Orientation

minus

Stabilized

minus

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

Make rs397516813(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

12599717

Gene

RAF1

is a	snp
is	mentioned by
dbSNP	rs397516813
dbSNP (classic)	rs397516813
ClinGen	rs397516813
ebi	rs397516813
HLI	rs397516813
Exac	rs397516813
Gnomad	rs397516813
Varsome	rs397516813
LitVar	rs397516813
Map	rs397516813
PheGenI	rs397516813
Biobank	rs397516813
1000 genomes	rs397516813
hgdp	rs397516813
ensembl	rs397516813
geneview	rs397516813
scholar	rs397516813
google	rs397516813
pharmgkb	rs397516813
gwascentral	rs397516813
openSNP	rs397516813
23andMe	rs397516813
SNPshot	rs397516813
SNPdbe	rs397516813
MSV3d	rs397516813
GWAS Ctlg	rs397516813

Max Magnitude

7

aka c.1082G>C (p.Gly361Ala)

ClinVar
Risk	rs397516813(C;C)
Alt	rs397516813(C;C)
Reference	Rs397516813(G;G)
Significance	Pathogenic
Disease	Noonan syndrome not provided Rasopathy
Variation	info
Gene	RAF1
CLNDBN	Noonan syndrome not provided Rasopathy
Reversed	1
HGVS	NC_000003.11:g.12641216C>G
CLNSRC
CLNACC	RCV000037671.3, RCV000159081.1, RCV000473341.1,