rs180177035

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	7	Rasopathy; Cardio-facio-cutaneous syndrome

Make rs180177035(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

140801502

Gene

BRAF

is a	snp
is	mentioned by
dbSNP	rs180177035
dbSNP (classic)	rs180177035
ClinGen	rs180177035
ebi	rs180177035
HLI	rs180177035
Exac	rs180177035
Gnomad	rs180177035
Varsome	rs180177035
LitVar	rs180177035
Map	rs180177035
PheGenI	rs180177035
Biobank	rs180177035
1000 genomes	rs180177035
hgdp	rs180177035
ensembl	rs180177035
geneview	rs180177035
scholar	rs180177035
google	rs180177035
pharmgkb	rs180177035
gwascentral	rs180177035
openSNP	rs180177035
23andMe	rs180177035
SNPshot	rs180177035
SNPdbe	rs180177035
MSV3d	rs180177035
GWAS Ctlg	rs180177035

Max Magnitude

7

aka c.770A>G (p.Gln257Arg)

23andMe name: i5000380

ClinVar
Risk	rs180177035(G;G)
Alt	rs180177035(G;G)
Reference	Rs180177035(A;A)
Significance	Pathogenic
Disease	Cardiofaciocutaneous syndrome 1 Rasopathy not provided Cardio-facio-cutaneous syndrome
Variation	info
Gene	BRAF
CLNDBN	Cardiofaciocutaneous syndrome 1 Rasopathy not provided Cardio-facio-cutaneous syndrome
Reversed	1
HGVS	NC_000007.13:g.140501302T>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015007.30, RCV000033289.8, RCV000080904.6, RCV000208766.1,