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rs180177042

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs180177042(A;A)
Make rs180177042(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position140749365
GeneBRAF
is asnp
is mentioned by
dbSNPrs180177042
ebirs180177042
HLIrs180177042
Exacrs180177042
Varsomers180177042
Maprs180177042
PheGenIrs180177042
hapmaprs180177042
1000 genomesrs180177042
hgdprs180177042
ensemblrs180177042
gopubmedrs180177042
geneviewrs180177042
scholarrs180177042
googlers180177042
pharmgkbrs180177042
gwascentralrs180177042
openSNPrs180177042
23andMers180177042
23andMe allrs180177042
SNP Nexus

SNPshotrs180177042
SNPdbers180177042
MSV3drs180177042
GWAS Ctlgrs180177042
Max Magnitude0
ClinVar
Risk rs180177042(A,G;A,G)
Alt rs180177042(A,G;A,G)
Reference rs180177042(T;T)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome not provided Cardiofaciocutaneous syndrome 1
Variation info
Gene BRAF
CLNDBN Cardiofaciocutaneous syndrome not provided Cardiofaciocutaneous syndrome 1
Reversed 1
HGVS NC_000007.13:g.140449165A>C; NC_000007.13:g.140449165A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000150199.1, RCV000157831.1, RCV000015015.28, RCV000033337.2,