rs397516827

Orientation

minus

Stabilized

minus

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

Make rs397516827(A;A)

Make rs397516827(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

12604194

Gene

RAF1

is a	snp
is	mentioned by
dbSNP	rs397516827
dbSNP (classic)	rs397516827
ClinGen	rs397516827
ebi	rs397516827
HLI	rs397516827
Exac	rs397516827
Gnomad	rs397516827
Varsome	rs397516827
LitVar	rs397516827
Map	rs397516827
PheGenI	rs397516827
Biobank	rs397516827
1000 genomes	rs397516827
hgdp	rs397516827
ensembl	rs397516827
geneview	rs397516827
scholar	rs397516827
google	rs397516827
pharmgkb	rs397516827
gwascentral	rs397516827
openSNP	rs397516827
23andMe	rs397516827
SNPshot	rs397516827
SNPdbe	rs397516827
MSV3d	rs397516827
GWAS Ctlg	rs397516827

Max Magnitude

0

ClinVar
Risk	rs397516827(A;A) rs397516827(G;G) rs397516827(T;T)
Alt	rs397516827(A;A) rs397516827(G;G) rs397516827(T;T)
Reference	Rs397516827(C;C)
Significance	Pathogenic
Disease	Rasopathy Noonan syndrome not provided not specified
Variation	info
Gene	RAF1
CLNDBN	Rasopathy Noonan syndrome not provided not specified
Reversed	1
HGVS	NC_000003.11:g.12645693G>A; NC_000003.11:g.12645693G>C; NC_000003.11:g.12645693G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000204940.1, RCV000423120.1, RCV000159075.2, RCV000037702.3,