Have questions? Visit https://www.reddit.com/r/SNPedia

rs28934584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28934584(G;T)
Make rs28934584(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position20348994
GeneUMOD
is asnp
is mentioned by
dbSNPrs28934584
dbSNP (classic)rs28934584
ClinGenrs28934584
ebirs28934584
HLIrs28934584
Exacrs28934584
Gnomadrs28934584
Varsomers28934584
LitVarrs28934584
Maprs28934584
PheGenIrs28934584
Biobankrs28934584
1000 genomesrs28934584
hgdprs28934584
ensemblrs28934584
geneviewrs28934584
scholarrs28934584
googlers28934584
pharmgkbrs28934584
gwascentralrs28934584
openSNPrs28934584
23andMers28934584
SNPshotrs28934584
SNPdbers28934584
MSV3drs28934584
GWAS Ctlgrs28934584
Max Magnitude0
OMIM191845
DescMEDULLARY CYSTIC KIDNEY DISEASE 2
Variant0004
Relatedalso


ClinVar
Risk rs28934584(A;A) rs28934584(T;T)
Alt rs28934584(A;A) rs28934584(T;T)
Reference Rs28934584(G;G)
Significance Pathogenic
Disease Medullary cystic kidney disease 2
Variation info
Gene UMOD
CLNDBN Medullary cystic kidney disease 2
Reversed 1
HGVS NC_000016.9:g.20360316C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013044.16,