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rs746471701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
(G;G) 0 common in clinvar


Make rs746471701(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position51632706
GenePKHD1
is asnp
is mentioned by
dbSNPrs746471701
ebirs746471701
HLIrs746471701
Exacrs746471701
Varsomers746471701
Maprs746471701
PheGenIrs746471701
hapmaprs746471701
1000 genomesrs746471701
hgdprs746471701
ensemblrs746471701
gopubmedrs746471701
geneviewrs746471701
scholarrs746471701
googlers746471701
pharmgkbrs746471701
gwascentralrs746471701
openSNPrs746471701
23andMers746471701
23andMe allrs746471701
SNP Nexus

SNPshotrs746471701
SNPdbers746471701
MSV3drs746471701
GWAS Ctlgrs746471701
Max Magnitude3
ClinVar
Risk rs746471701(A;A)
Alt rs746471701(A;A)
Reference rs746471701(G;G)
Significance Probable-Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 0
HGVS NC_000006.11:g.51497504G>A
CLNSRC
CLNACC RCV000169068.1,