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rs1057516872

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516872(A;C)
Make rs1057516872(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52033167
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516872
dbSNP (old)rs1057516872
ClinGenrs1057516872
ebirs1057516872
HLIrs1057516872
Exacrs1057516872
Gnomadrs1057516872
Varsomers1057516872
Maprs1057516872
PheGenIrs1057516872
Biobankrs1057516872
1000 genomesrs1057516872
hgdprs1057516872
ensemblrs1057516872
gopubmedrs1057516872
geneviewrs1057516872
scholarrs1057516872
googlers1057516872
pharmgkbrs1057516872
gwascentralrs1057516872
openSNPrs1057516872
23andMers1057516872
23andMe allrs1057516872
SNPshotrs1057516872
SNPdbers1057516872
MSV3drs1057516872
GWAS Ctlgrs1057516872
Max Magnitude0
ClinVar
Risk rs1057516872(C;C)
Alt rs1057516872(C;C)
Reference Rs1057516872(A;A)
Significance Probable-Pathogenic
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 1
HGVS NC_000006.11:g.51897965T>G
CLNSRC
CLNACC RCV000410242.1,