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rs1057517244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517244(-;-)
Make rs1057517244(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51753319
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517244
dbSNP (classic)rs1057517244
ClinGenrs1057517244
ebirs1057517244
HLIrs1057517244
Exacrs1057517244
Gnomadrs1057517244
Varsomers1057517244
LitVarrs1057517244
Maprs1057517244
PheGenIrs1057517244
Biobankrs1057517244
1000 genomesrs1057517244
hgdprs1057517244
ensemblrs1057517244
geneviewrs1057517244
scholarrs1057517244
googlers1057517244
pharmgkbrs1057517244
gwascentralrs1057517244
openSNPrs1057517244
23andMers1057517244
23andMe allrs1057517244
SNPshotrs1057517244
SNPdbers1057517244
MSV3drs1057517244
GWAS Ctlgrs1057517244
Max Magnitude0
ClinVar
Risk rs1057517244(-;-)
Alt rs1057517244(-;-)
Reference Rs1057517244(T;T)
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.51618117delA
CLNSRC
CLNACC RCV000411888.1,