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rs28937907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a possible polycystic kidney disease allele
(T;T) 6 possible polycystic kidney disease
ReferenceGRCh38 38.1/141
Chromosome6
Position52024819
GenePKHD1
is asnp
is mentioned by
dbSNPrs28937907
ebirs28937907
HLIrs28937907
Exacrs28937907
Varsomers28937907
Maprs28937907
PheGenIrs28937907
hapmaprs28937907
1000 genomesrs28937907
hgdprs28937907
ensemblrs28937907
gopubmedrs28937907
geneviewrs28937907
scholarrs28937907
googlers28937907
pharmgkbrs28937907
gwascentralrs28937907
openSNPrs28937907
23andMers28937907
23andMe allrs28937907
SNP Nexus

SNPshotrs28937907
SNPdbers28937907
MSV3drs28937907
GWAS Ctlgrs28937907
Max Magnitude6
Polycystic Kidney disease
OMIM606702
DescPOLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
Variant0002
Relatedalso
Neighborrs28939099
Distance230


ClinVar
Risk rs28937907(T;T)
Alt rs28937907(T;T)
Reference rs28937907(C;C)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51889617G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004325.2,