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

rs137852946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 possible polycystic kidney disease
(A;G) 3 carrier of a possible polycystic kidney disease allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position52024589
GenePKHD1
is asnp
is mentioned by
dbSNPrs137852946
ebirs137852946
HLIrs137852946
Exacrs137852946
Varsomers137852946
Maprs137852946
PheGenIrs137852946
hapmaprs137852946
1000 genomesrs137852946
hgdprs137852946
ensemblrs137852946
gopubmedrs137852946
geneviewrs137852946
scholarrs137852946
googlers137852946
pharmgkbrs137852946
gwascentralrs137852946
openSNPrs137852946
23andMers137852946
23andMe allrs137852946
SNP Nexus

SNPshotrs137852946
SNPdbers137852946
MSV3drs137852946
GWAS Ctlgrs137852946
Merged fromRs28939099
Max Magnitude6
OMIM606702
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852946(A;A)
Alt rs137852946(A;A)
Reference rs137852946(G;G)
Significance Pathogenic
Disease Polycystic kidney disease not provided
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type not provided
Reversed 1
HGVS NC_000006.11:g.51889387C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004327.2, RCV000153715.3,