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rs1057517324

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517324(-;-)
Make rs1057517324(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51627006
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517324
dbSNP (old)rs1057517324
ClinGenrs1057517324
ebirs1057517324
HLIrs1057517324
Exacrs1057517324
Gnomadrs1057517324
Varsomers1057517324
Maprs1057517324
PheGenIrs1057517324
Biobankrs1057517324
1000 genomesrs1057517324
hgdprs1057517324
ensemblrs1057517324
gopubmedrs1057517324
geneviewrs1057517324
scholarrs1057517324
googlers1057517324
pharmgkbrs1057517324
gwascentralrs1057517324
openSNPrs1057517324
23andMers1057517324
23andMe allrs1057517324
SNPshotrs1057517324
SNPdbers1057517324
MSV3drs1057517324
GWAS Ctlgrs1057517324
Max Magnitude0
ClinVar
Risk rs1057517324(-;-)
Alt rs1057517324(-;-)
Reference Rs1057517324(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.51491804delC
CLNSRC
CLNACC RCV000412407.1,