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rs1057517394

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517394(-;-)
Make rs1057517394(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52043633
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517394
dbSNP (old)rs1057517394
ClinGenrs1057517394
ebirs1057517394
HLIrs1057517394
Exacrs1057517394
Gnomadrs1057517394
Varsomers1057517394
Maprs1057517394
PheGenIrs1057517394
Biobankrs1057517394
1000 genomesrs1057517394
hgdprs1057517394
ensemblrs1057517394
gopubmedrs1057517394
geneviewrs1057517394
scholarrs1057517394
googlers1057517394
pharmgkbrs1057517394
gwascentralrs1057517394
openSNPrs1057517394
23andMers1057517394
23andMe allrs1057517394
SNPshotrs1057517394
SNPdbers1057517394
MSV3drs1057517394
GWAS Ctlgrs1057517394
Max Magnitude0
ClinVar
Risk rs1057517394(-;-)
Alt rs1057517394(-;-)
Reference Rs1057517394(A;A)
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.51908431delT
CLNSRC
CLNACC RCV000412096.1,