Have questions? Visit https://www.reddit.com/r/SNPedia

rs746972457

From SNPedia

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


Make rs746972457(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position52026044
GenePKHD1
is asnp
is mentioned by
dbSNPrs746972457
ebirs746972457
HLIrs746972457
Exacrs746972457
Varsomers746972457
Maprs746972457
PheGenIrs746972457
hapmaprs746972457
1000 genomesrs746972457
hgdprs746972457
ensemblrs746972457
gopubmedrs746972457
geneviewrs746972457
scholarrs746972457
googlers746972457
pharmgkbrs746972457
gwascentralrs746972457
openSNPrs746972457
23andMers746972457
23andMe allrs746972457
SNP Nexus

SNPshotrs746972457
SNPdbers746972457
MSV3drs746972457
GWAS Ctlgrs746972457
Max Magnitude3
ClinVar
Risk rs746972457(;)
Alt rs746972457(;)
Reference rs746972457(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.51890842delG
CLNSRC
CLNACC RCV000169060.1,