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rs5030808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs5030808(A;A)
Make rs5030808(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position10142124
GeneVHL
is asnp
is mentioned by
dbSNPrs5030808
ebirs5030808
HLIrs5030808
Exacrs5030808
Varsomers5030808
Maprs5030808
PheGenIrs5030808
hapmaprs5030808
1000 genomesrs5030808
hgdprs5030808
ensemblrs5030808
gopubmedrs5030808
geneviewrs5030808
scholarrs5030808
googlers5030808
pharmgkbrs5030808
gwascentralrs5030808
openSNPrs5030808
23andMers5030808
23andMe allrs5030808
SNP Nexus

SNPshotrs5030808
SNPdbers5030808
MSV3drs5030808
GWAS Ctlgrs5030808
Max Magnitude0
OMIM608537
Desc
Variant0026
Relatedalso
ClinVar
Risk rs5030808(A,C;A,C)
Alt rs5030808(A,C;A,C)
Reference rs5030808(G;G)
Significance Pathogenic
Disease Pheochromocytoma Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Pheochromocytoma Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10183808G>A; NC_000003.11:g.10183808G>C; NC_000003.11:g.10183808G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002325.3, RCV000208813.1, RCV000208861.1, RCV000208845.1,