rs180177040

Orientation

minus

Stabilized

minus

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

Make rs180177040(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

140754187

Gene

BRAF

is a	snp
is	mentioned by
dbSNP	rs180177040
dbSNP (classic)	rs180177040
ClinGen	rs180177040
ebi	rs180177040
HLI	rs180177040
Exac	rs180177040
Gnomad	rs180177040
Varsome	rs180177040
LitVar	rs180177040
Map	rs180177040
PheGenI	rs180177040
Biobank	rs180177040
1000 genomes	rs180177040
hgdp	rs180177040
ensembl	rs180177040
geneview	rs180177040
scholar	rs180177040
google	rs180177040
pharmgkb	rs180177040
gwascentral	rs180177040
openSNP	rs180177040
23andMe	rs180177040
SNPshot	rs180177040
SNPdbe	rs180177040
MSV3d	rs180177040
GWAS Ctlg	rs180177040

Max Magnitude

7

aka c.1741A>G (p.Asn581Asp)

23andMe name: i5000373

ClinVar
Risk	rs180177040(C;C) rs180177040(G;G)
Alt	rs180177040(C;C) rs180177040(G;G)
Reference	Rs180177040(A;A)
Significance	Pathogenic
Disease	Cardiofaciocutaneous syndrome 1 not provided Cardio-facio-cutaneous syndrome Rasopathy Multiple myeloma Papillary renal cell carcinoma Adenocarcinoma of lung Ovarian Serous Cystadenocarcinoma Malignant melanoma of skin Colorectal Neoplasms
Variation	info
Gene	BRAF
CLNDBN	Cardiofaciocutaneous syndrome 1 not provided Cardio-facio-cutaneous syndrome Rasopathy Multiple myeloma Papillary renal cell carcinoma, sporadic Adenocarcinoma of lung Ovarian Serous Cystadenocarcinoma Malignant melanoma of skin Colorectal Neoplasms
Reversed	1
HGVS	NC_000007.13:g.140453987T>C; NC_000007.13:g.140453987T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015013.30, RCV000033329.6, RCV000211751.1, RCV000474979.1, RCV000422257.1, RCV000425037.1, RCV000431645.1, RCV000433029.1, RCV000439352.1, RCV000441971.1,