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rs797044745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common/normal
(-;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs797044745(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position51867876
GenePKHD1
is asnp
is mentioned by
dbSNPrs797044745
ebirs797044745
HLIrs797044745
Exacrs797044745
Varsomers797044745
Maprs797044745
PheGenIrs797044745
hapmaprs797044745
1000 genomesrs797044745
hgdprs797044745
ensemblrs797044745
gopubmedrs797044745
geneviewrs797044745
scholarrs797044745
googlers797044745
pharmgkbrs797044745
gwascentralrs797044745
openSNPrs797044745
23andMers797044745
23andMe allrs797044745
SNP Nexus

SNPshotrs797044745
SNPdbers797044745
MSV3drs797044745
GWAS Ctlgrs797044745
Max Magnitude3
ClinVar
Risk rs797044745(T;T)
Alt rs797044745(T;T)
Reference rs797044745(;)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51732675dupA
CLNSRC
CLNACC RCV000178675.1,