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rs773136605

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs773136605(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position52043102
GenePKHD1
is asnp
is mentioned by
dbSNPrs773136605
ebirs773136605
HLIrs773136605
Exacrs773136605
Varsomers773136605
Maprs773136605
PheGenIrs773136605
hapmaprs773136605
1000 genomesrs773136605
hgdprs773136605
ensemblrs773136605
gopubmedrs773136605
geneviewrs773136605
scholarrs773136605
googlers773136605
pharmgkbrs773136605
gwascentralrs773136605
openSNPrs773136605
23andMers773136605
23andMe allrs773136605
SNP Nexus

SNPshotrs773136605
SNPdbers773136605
MSV3drs773136605
GWAS Ctlgrs773136605
Max Magnitude3
ClinVar
Risk rs773136605(T;T)
Alt rs773136605(T;T)
Reference rs773136605(C;C)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 0
HGVS NC_000006.11:g.51907900C>T
CLNSRC
CLNACC RCV000176777.1,