rs397516830

Orientation

minus

Stabilized

minus

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

Make rs397516830(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

12604182

Gene

RAF1

is a	snp
is	mentioned by
dbSNP	rs397516830
dbSNP (classic)	rs397516830
ClinGen	rs397516830
ebi	rs397516830
HLI	rs397516830
Exac	rs397516830
Gnomad	rs397516830
Varsome	rs397516830
LitVar	rs397516830
Map	rs397516830
PheGenI	rs397516830
Biobank	rs397516830
1000 genomes	rs397516830
hgdp	rs397516830
ensembl	rs397516830
geneview	rs397516830
scholar	rs397516830
google	rs397516830
pharmgkb	rs397516830
gwascentral	rs397516830
openSNP	rs397516830
23andMe	rs397516830
SNPshot	rs397516830
SNPdbe	rs397516830
MSV3d	rs397516830
GWAS Ctlg	rs397516830

Max Magnitude

7

aka c.788T>G (p.Val263Gly)

ClinVar
Risk	rs397516830(C;C) rs397516830(G;G)
Alt	rs397516830(C;C) rs397516830(G;G)
Reference	Rs397516830(T;T)
Significance	Other
Disease	Noonan syndrome not provided
Variation	info
Gene	RAF1
CLNDBN	Noonan syndrome not provided
Reversed	1
HGVS	NC_000003.11:g.12645681A>C; NC_000003.11:g.12645681A>G
CLNSRC	ClinVar
CLNACC	RCV000037708.4, RCV000159078.1, RCV000442596.1,