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rs148617572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar


Make rs148617572(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position51659682
GeneLOC105375087, PKHD1
is asnp
is mentioned by
dbSNPrs148617572
ebirs148617572
HLIrs148617572
Exacrs148617572
Varsomers148617572
Maprs148617572
PheGenIrs148617572
hapmaprs148617572
1000 genomesrs148617572
hgdprs148617572
ensemblrs148617572
gopubmedrs148617572
geneviewrs148617572
scholarrs148617572
googlers148617572
pharmgkbrs148617572
gwascentralrs148617572
openSNPrs148617572
23andMers148617572
23andMe allrs148617572
SNP Nexus

SNPshotrs148617572
SNPdbers148617572
MSV3drs148617572
GWAS Ctlgrs148617572
Max Magnitude0
ClinVar
Risk rs148617572(A;A)
Alt rs148617572(A;A)
Reference rs148617572(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.51524480G>A
CLNSRC
CLNACC RCV000169255.1,