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rs797044607

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 3 Carrier of an autosomal recessive polycystic kidney disease mutation


Make rs797044607(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position52024787
GenePKHD1
is asnp
is mentioned by
dbSNPrs797044607
ebirs797044607
HLIrs797044607
Exacrs797044607
Varsomers797044607
Maprs797044607
PheGenIrs797044607
hapmaprs797044607
1000 genomesrs797044607
hgdprs797044607
ensemblrs797044607
gopubmedrs797044607
geneviewrs797044607
scholarrs797044607
googlers797044607
pharmgkbrs797044607
gwascentralrs797044607
openSNPrs797044607
23andMers797044607
23andMe allrs797044607
SNP Nexus

SNPshotrs797044607
SNPdbers797044607
MSV3drs797044607
GWAS Ctlgrs797044607
Max Magnitude3
ClinVar
Risk rs797044607(;)
Alt rs797044607(;)
Reference rs797044607(G;G)
Significance Probable-Pathogenic
Disease Homocystinuria due to CBS deficiency
Variation info
Gene PKHD1
CLNDBN Homocystinuria due to CBS deficiency
Reversed 1
HGVS NC_000006.11:g.51889585delC
CLNSRC
CLNACC RCV000192625.1,