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rs1057519718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs1057519718(GA;GA)
Make rs1057519718(GA;TG)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position140753355
GeneBRAF
is asnp
is mentioned by
dbSNPrs1057519718
dbSNP (classic)rs1057519718
ClinGenrs1057519718
ebirs1057519718
HLIrs1057519718
Exacrs1057519718
Gnomadrs1057519718
Varsomers1057519718
LitVarrs1057519718
Maprs1057519718
PheGenIrs1057519718
Biobankrs1057519718
1000 genomesrs1057519718
hgdprs1057519718
ensemblrs1057519718
geneviewrs1057519718
scholarrs1057519718
googlers1057519718
pharmgkbrs1057519718
gwascentralrs1057519718
openSNPrs1057519718
23andMers1057519718
SNPshotrs1057519718
SNPdbers1057519718
MSV3drs1057519718
GWAS Ctlgrs1057519718
Max Magnitude0
ClinVar
Risk rs1057519718(GA;GA)
Alt rs1057519718(GA;GA)
Reference Rs1057519718(TG;TG)
Significance Pathogenic
Disease Malignant melanoma
Variation info
Gene BRAF
CLNDBN Malignant melanoma
Reversed 1
HGVS NC_000007.13:g.140453155_140453156delCAinsTC
CLNSRC
CLNACC RCV000427497.1,