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rs1057516490

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516490(C;T)
Make rs1057516490(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51847832
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516490
dbSNP (classic)rs1057516490
ClinGenrs1057516490
ebirs1057516490
HLIrs1057516490
Exacrs1057516490
Gnomadrs1057516490
Varsomers1057516490
LitVarrs1057516490
Maprs1057516490
PheGenIrs1057516490
Biobankrs1057516490
1000 genomesrs1057516490
hgdprs1057516490
ensemblrs1057516490
geneviewrs1057516490
scholarrs1057516490
googlers1057516490
pharmgkbrs1057516490
gwascentralrs1057516490
openSNPrs1057516490
23andMers1057516490
23andMe allrs1057516490
SNPshotrs1057516490
SNPdbers1057516490
MSV3drs1057516490
GWAS Ctlgrs1057516490
Max Magnitude0
ClinVar
Risk rs1057516490(T;T)
Alt rs1057516490(T;T)
Reference Rs1057516490(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.51712630G>A
CLNSRC
CLNACC RCV000411627.1,