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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
GeneLOC105375086, PKHD1
is asnp
is mentioned by
dbSNPrs786204588
ebirs786204588
HLIrs786204588
Exacrs786204588
Varsomers786204588
Maprs786204588
PheGenIrs786204588
hapmaprs786204588
1000 genomesrs786204588
hgdprs786204588
ensemblrs786204588
gopubmedrs786204588
geneviewrs786204588
scholarrs786204588
googlers786204588
pharmgkbrs786204588
gwascentralrs786204588
openSNPrs786204588
23andMers786204588
23andMe allrs786204588
SNP Nexus

SNPshotrs786204588
SNPdbers786204588
MSV3drs786204588
GWAS Ctlgrs786204588
Max Magnitude3
ClinVar
Risk rs786204588(;)
Alt rs786204588(;)
Reference rs786204588(AATG;AATG)
Significance Probable-Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51934319_51934322delCATT
CLNSRC
CLNACC RCV000169335.1,