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rs797045101

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
(T;T) 0 common/normal


Make rs797045101(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position51748057
GenePKHD1
is asnp
is mentioned by
dbSNPrs797045101
ebirs797045101
HLIrs797045101
Exacrs797045101
Varsomers797045101
Maprs797045101
PheGenIrs797045101
hapmaprs797045101
1000 genomesrs797045101
hgdprs797045101
ensemblrs797045101
gopubmedrs797045101
geneviewrs797045101
scholarrs797045101
googlers797045101
pharmgkbrs797045101
gwascentralrs797045101
openSNPrs797045101
23andMers797045101
23andMe allrs797045101
SNP Nexus

SNPshotrs797045101
SNPdbers797045101
MSV3drs797045101
GWAS Ctlgrs797045101
Max Magnitude3
ClinVar
Risk rs797045101(;)
Alt rs797045101(;)
Reference rs797045101(T;T)
Significance Pathogenic
Disease Polycystic kidney disease not provided
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type not provided
Reversed 1
HGVS NC_000006.11:g.51612855delA
CLNSRC
CLNACC RCV000190615.1, RCV000223998.1,