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rs398123483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123483(-;-)
Make rs398123483(-;TTGTCCGT)
Make rs398123483(TTGTCCGT;TTGTCCGT)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149824
GeneVHL
is asnp
is mentioned by
dbSNPrs398123483
ebirs398123483
HLIrs398123483
Exacrs398123483
Varsomers398123483
Maprs398123483
PheGenIrs398123483
hapmaprs398123483
1000 genomesrs398123483
hgdprs398123483
ensemblrs398123483
gopubmedrs398123483
geneviewrs398123483
scholarrs398123483
googlers398123483
pharmgkbrs398123483
gwascentralrs398123483
openSNPrs398123483
23andMers398123483
23andMe allrs398123483
SNP Nexus

SNPshotrs398123483
SNPdbers398123483
MSV3drs398123483
GWAS Ctlgrs398123483
Max Magnitude0
ClinVar
Risk rs398123483(TTGTCCGT;TTGTCCGT)
Alt rs398123483(TTGTCCGT;TTGTCCGT)
Reference rs398123483(;)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10191508_10191509insTTGTCCGT
CLNSRC HGMD
CLNACC RCV000079210.5,