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rs28940300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940300(C;T)
Make rs28940300(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149897
GeneVHL
is asnp
is mentioned by
dbSNPrs28940300
ebirs28940300
HLIrs28940300
Exacrs28940300
Varsomers28940300
Maprs28940300
PheGenIrs28940300
hapmaprs28940300
1000 genomesrs28940300
hgdprs28940300
ensemblrs28940300
gopubmedrs28940300
geneviewrs28940300
scholarrs28940300
googlers28940300
pharmgkbrs28940300
gwascentralrs28940300
openSNPrs28940300
23andMers28940300
23andMe allrs28940300
SNP Nexus

SNPshotrs28940300
SNPdbers28940300
MSV3drs28940300
GWAS Ctlgrs28940300
Max Magnitude0
OMIM608537
DescERYTHROCYTOSIS, FAMILIAL, 2
Variant0023
Relatedalso
Neighborrs28940301
Distance3
Neighborrs28940298
Distance24


ClinVar
Risk rs28940300(T;T)
Alt rs28940300(T;T)
Reference rs28940300(C;C)
Significance Pathogenic
Disease Erythrocytosis not specified
Variation info
Gene VHL
CLNDBN Erythrocytosis, familial, 2 not specified
Reversed 0
HGVS NC_000003.11:g.10191581C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002322.3, RCV000236065.1,