rs121913341

Orientation

minus

Stabilized

minus

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

Make rs121913341(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

140753350

Gene

BRAF

is a	snp
is	mentioned by
dbSNP	rs121913341
dbSNP (classic)	rs121913341
ClinGen	rs121913341
ebi	rs121913341
HLI	rs121913341
Exac	rs121913341
Gnomad	rs121913341
Varsome	rs121913341
LitVar	rs121913341
Map	rs121913341
PheGenI	rs121913341
Biobank	rs121913341
1000 genomes	rs121913341
hgdp	rs121913341
ensembl	rs121913341
geneview	rs121913341
scholar	rs121913341
google	rs121913341
pharmgkb	rs121913341
gwascentral	rs121913341
openSNP	rs121913341
23andMe	rs121913341
SNPshot	rs121913341
SNPdbe	rs121913341
MSV3d	rs121913341
GWAS Ctlg	rs121913341

Max Magnitude

7

aka c.1785T>G (p.Phe595Leu)

23andMe name: i6008212

ClinVar
Risk	rs121913341(A;A) rs121913341(G;G)
Alt	rs121913341(A;A) rs121913341(G;G)
Reference	Rs121913341(T;T)
Significance	Pathogenic
Disease	Cardio-facio-cutaneous syndrome not provided Neoplasm Malignant melanoma
Variation	info
Gene	BRAF
CLNDBN	Cardio-facio-cutaneous syndrome not provided Neoplasm Malignant melanoma
Reversed	1
HGVS	NC_000007.13:g.140453150A>C; NC_000007.13:g.140453150A>T
CLNSRC
CLNACC	RCV000154266.1, RCV000157825.2, RCV000426478.1, RCV000445270.1, RCV000157824.1, RCV000437147.1,