rs180177034

Orientation

minus

Stabilized

minus

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

Make rs180177034(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

140801536

Gene

BRAF

is a	snp
is	mentioned by
dbSNP	rs180177034
dbSNP (classic)	rs180177034
ClinGen	rs180177034
ebi	rs180177034
HLI	rs180177034
Exac	rs180177034
Gnomad	rs180177034
Varsome	rs180177034
LitVar	rs180177034
Map	rs180177034
PheGenI	rs180177034
Biobank	rs180177034
1000 genomes	rs180177034
hgdp	rs180177034
ensembl	rs180177034
geneview	rs180177034
scholar	rs180177034
google	rs180177034
pharmgkb	rs180177034
gwascentral	rs180177034
openSNP	rs180177034
23andMe	rs180177034
SNPshot	rs180177034
SNPdbe	rs180177034
MSV3d	rs180177034
GWAS Ctlg	rs180177034

Max Magnitude

7

aka c.736G>C (p.Ala246Pro)

23andMe name: i5000379

ClinVar
Risk	rs180177034(C;C)
Alt	rs180177034(C;C)
Reference	Rs180177034(G;G)
Significance	Pathogenic
Disease	Cardiofaciocutaneous syndrome 1 Rasopathy Cardio-facio-cutaneous syndrome not provided
Variation	info
Gene	BRAF
CLNDBN	Cardiofaciocutaneous syndrome 1 Rasopathy Cardio-facio-cutaneous syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.140501336C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014998.26, RCV000033285.6, RCV000208416.1, RCV000235118.1,