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rs1057516201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516201(C;C)
Make rs1057516201(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51748665
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516201
dbSNP (old)rs1057516201
ClinGenrs1057516201
ebirs1057516201
HLIrs1057516201
Exacrs1057516201
Gnomadrs1057516201
Varsomers1057516201
Maprs1057516201
PheGenIrs1057516201
Biobankrs1057516201
1000 genomesrs1057516201
hgdprs1057516201
ensemblrs1057516201
gopubmedrs1057516201
geneviewrs1057516201
scholarrs1057516201
googlers1057516201
pharmgkbrs1057516201
gwascentralrs1057516201
openSNPrs1057516201
23andMers1057516201
23andMe allrs1057516201
SNPshotrs1057516201
SNPdbers1057516201
MSV3drs1057516201
GWAS Ctlgrs1057516201
Max Magnitude0
ClinVar
Risk rs1057516201(C;C)
Alt rs1057516201(C;C)
Reference Rs1057516201(G;G)
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.51613463C>G
CLNSRC
CLNACC RCV000408884.1,