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rs727504087

From SNPedia

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


Make rs727504087(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position52025077
GenePKHD1
is asnp
is mentioned by
dbSNPrs727504087
ebirs727504087
HLIrs727504087
Exacrs727504087
Varsomers727504087
Maprs727504087
PheGenIrs727504087
hapmaprs727504087
1000 genomesrs727504087
hgdprs727504087
ensemblrs727504087
gopubmedrs727504087
geneviewrs727504087
scholarrs727504087
googlers727504087
pharmgkbrs727504087
gwascentralrs727504087
openSNPrs727504087
23andMers727504087
23andMe allrs727504087
SNP Nexus

SNPshotrs727504087
SNPdbers727504087
MSV3drs727504087
GWAS Ctlgrs727504087
Max Magnitude3
ClinVar
Risk rs727504087(;)
Alt rs727504087(;)
Reference rs727504087(A;A)
Significance Pathogenic
Disease not provided Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN not provided Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51889875delT
CLNSRC
CLNACC RCV000153716.2, RCV000177668.1,