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

rs1057516445

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516445(A;A)
Make rs1057516445(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51747933
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516445
dbSNP (old)rs1057516445
ClinGenrs1057516445
ebirs1057516445
HLIrs1057516445
Exacrs1057516445
Gnomadrs1057516445
Varsomers1057516445
Maprs1057516445
PheGenIrs1057516445
Biobankrs1057516445
1000 genomesrs1057516445
hgdprs1057516445
ensemblrs1057516445
gopubmedrs1057516445
geneviewrs1057516445
scholarrs1057516445
googlers1057516445
pharmgkbrs1057516445
gwascentralrs1057516445
openSNPrs1057516445
23andMers1057516445
23andMe allrs1057516445
SNPshotrs1057516445
SNPdbers1057516445
MSV3drs1057516445
GWAS Ctlgrs1057516445
Max Magnitude0
ClinVar
Risk rs1057516445(A;A)
Alt rs1057516445(A;A)
Reference Rs1057516445(C;C)
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.51612731G>T
CLNSRC
CLNACC RCV000411250.1,