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rs794729660

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ATC) 7 Von Hippel-Lindau syndrome mutation
(TCA;TCA) 0 common in clinvar
Make rs794729660(-;-)
Make rs794729660(ATC;ATC)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position10142070
GeneVHL
is asnp
is mentioned by
dbSNPrs794729660
dbSNP (classic)rs794729660
ClinGenrs794729660
ebirs794729660
HLIrs794729660
Exacrs794729660
Gnomadrs794729660
Varsomers794729660
LitVarrs794729660
Maprs794729660
PheGenIrs794729660
Biobankrs794729660
1000 genomesrs794729660
hgdprs794729660
ensemblrs794729660
geneviewrs794729660
scholarrs794729660
googlers794729660
pharmgkbrs794729660
gwascentralrs794729660
openSNPrs794729660
23andMers794729660
SNPshotrs794729660
SNPdbers794729660
MSV3drs794729660
GWAS Ctlgrs794729660
Max Magnitude7
ClinVar
Risk rs794729660(-;-)
Alt rs794729660(-;-)
Reference Rs794729660(TCA;TCA)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10183754_10183756delATC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002298.3,