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rs786204588

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AATG) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
(AATG;AATG) 0 common in clinvar


Make rs786204588(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position52069521
GenePKHD1
is asnp
is mentioned by
dbSNPrs786204588
dbSNP (classic)rs786204588
ClinGenrs786204588
ebirs786204588
HLIrs786204588
Exacrs786204588
Gnomadrs786204588
Varsomers786204588
LitVarrs786204588
Maprs786204588
PheGenIrs786204588
Biobankrs786204588
1000 genomesrs786204588
hgdprs786204588
ensemblrs786204588
geneviewrs786204588
scholarrs786204588
googlers786204588
pharmgkbrs786204588
gwascentralrs786204588
openSNPrs786204588
23andMers786204588
SNPshotrs786204588
SNPdbers786204588
MSV3drs786204588
GWAS Ctlgrs786204588
Max Magnitude3
ClinVar
Risk rs786204588(-;-)
Alt rs786204588(-;-)
Reference Rs786204588(AATG;AATG)
Significance Other
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 1
HGVS NC_000006.11:g.51934319_51934322delCATT
CLNSRC
CLNACC RCV000169335.2,