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rs121913227

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs121913227(AA;AA)
Make rs121913227(AA;GT)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position140753336
GeneBRAF
is asnp
is mentioned by
dbSNPrs121913227
dbSNP (classic)rs121913227
ClinGenrs121913227
ebirs121913227
HLIrs121913227
Exacrs121913227
Gnomadrs121913227
Varsomers121913227
LitVarrs121913227
Maprs121913227
PheGenIrs121913227
Biobankrs121913227
1000 genomesrs121913227
hgdprs121913227
ensemblrs121913227
geneviewrs121913227
scholarrs121913227
googlers121913227
pharmgkbrs121913227
gwascentralrs121913227
openSNPrs121913227
23andMers121913227
SNPshotrs121913227
SNPdbers121913227
MSV3drs121913227
GWAS Ctlgrs121913227
Max Magnitude0
ClinVar
Risk rs121913227(AA;AA) rs121913227(AG;AG)
Alt rs121913227(AA;AA) rs121913227(AG;AG)
Reference Rs121913227(GT;GT)
Significance Pathogenic
Disease Malignant melanoma
Variation info
Gene BRAF
CLNDBN Malignant melanoma
Reversed 1
HGVS NC_000007.13:g.140453136_140453137delACinsCT; NC_000007.13:g.140453136_140453137delACinsTT
CLNSRC
CLNACC RCV000440177.1, RCV000422502.1,