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rs727504089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs727504089(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position52043721
GenePKHD1
is asnp
is mentioned by
dbSNPrs727504089
ebirs727504089
HLIrs727504089
Exacrs727504089
Varsomers727504089
Maprs727504089
PheGenIrs727504089
hapmaprs727504089
1000 genomesrs727504089
hgdprs727504089
ensemblrs727504089
gopubmedrs727504089
geneviewrs727504089
scholarrs727504089
googlers727504089
pharmgkbrs727504089
gwascentralrs727504089
openSNPrs727504089
23andMers727504089
23andMe allrs727504089
SNP Nexus

SNPshotrs727504089
SNPdbers727504089
MSV3drs727504089
GWAS Ctlgrs727504089
Max Magnitude3
ClinVar
Risk rs727504089(T;T)
Alt rs727504089(T;T)
Reference rs727504089(C;C)
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.51908519G>A
CLNSRC
CLNACC RCV000153720.2, RCV000176696.1,