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rs199839578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199839578(A;A)
Make rs199839578(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51648115
GeneLOC105375087, PKHD1
is asnp
is mentioned by
dbSNPrs199839578
dbSNP (old)rs199839578
ClinGenrs199839578
ebirs199839578
HLIrs199839578
Exacrs199839578
Gnomadrs199839578
Varsomers199839578
Maprs199839578
PheGenIrs199839578
Biobankrs199839578
1000 genomesrs199839578
hgdprs199839578
ensemblrs199839578
gopubmedrs199839578
geneviewrs199839578
scholarrs199839578
googlers199839578
pharmgkbrs199839578
gwascentralrs199839578
openSNPrs199839578
23andMers199839578
23andMe allrs199839578
SNPshotrs199839578
SNPdbers199839578
MSV3drs199839578
GWAS Ctlgrs199839578
Max Magnitude0
ClinVar
Risk rs199839578(A;A)
Alt rs199839578(A;A)
Reference Rs199839578(G;G)
Significance Probable-Pathogenic
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 0
HGVS NC_000006.11:g.51512913G>A
CLNSRC
CLNACC RCV000411765.1,