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rs5030648

From SNPedia

Orientationplus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs5030648(-;-)
Make rs5030648(-;TCT)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10142074
GeneVHL
is asnp
is mentioned by
dbSNPrs5030648
ebirs5030648
HLIrs5030648
Exacrs5030648
Varsomers5030648
Maprs5030648
PheGenIrs5030648
hapmaprs5030648
1000 genomesrs5030648
hgdprs5030648
ensemblrs5030648
gopubmedrs5030648
geneviewrs5030648
scholarrs5030648
googlers5030648
pharmgkbrs5030648
gwascentralrs5030648
openSNPrs5030648
23andMers5030648
23andMe allrs5030648
SNP Nexus

SNPshotrs5030648
SNPdbers5030648
MSV3drs5030648
GWAS Ctlgrs5030648
Max Magnitude0
ClinVar
Risk rs5030648(;)
Alt rs5030648(;)
Reference rs5030648(TCT;TCT)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10183758_10183760delTCT
CLNSRC
CLNACC RCV000208790.1,