rs3730271

Orientation

minus

Stabilized

minus

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

Make rs3730271(C;C)

Reference

GRCh38 38.1/142

Chromosome

3

Position

12604195

Gene

RAF1

is a	snp
is	mentioned by
dbSNP	rs3730271
dbSNP (classic)	rs3730271
ClinGen	rs3730271
ebi	rs3730271
HLI	rs3730271
Exac	rs3730271
Gnomad	rs3730271
Varsome	rs3730271
LitVar	rs3730271
Map	rs3730271
PheGenI	rs3730271
Biobank	rs3730271
1000 genomes	rs3730271
hgdp	rs3730271
ensembl	rs3730271
geneview	rs3730271
scholar	rs3730271
google	rs3730271
pharmgkb	rs3730271
gwascentral	rs3730271
openSNP	rs3730271
23andMe	rs3730271
SNPshot	rs3730271
SNPdbe	rs3730271
MSV3d	rs3730271
GWAS Ctlg	rs3730271

Max Magnitude

7

aka c.775T>A (p.Ser259Thr) and also c.775T>C (p.Ser259Pro)

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs3730271(A;A) rs3730271(C;C)
Alt	rs3730271(A;A) rs3730271(C;C)
Reference	Rs3730271(T;T)
Significance	Pathogenic
Disease	Noonan syndrome not provided
Variation	info
Gene	RAF1
CLNDBN	Noonan syndrome not provided
Reversed	1
HGVS	NC_000003.11:g.12645694A>G; NC_000003.11:g.12645694A>T
CLNSRC	ClinVar
CLNACC	RCV000215259.1, RCV000037698.2, RCV000159074.2,