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rs1057517378

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TAG;TAG) 0 common in clinvar
Make rs1057517378(A;A)
Make rs1057517378(A;TAG)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51912577
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517378
dbSNP (classic)rs1057517378
ClinGenrs1057517378
ebirs1057517378
HLIrs1057517378
Exacrs1057517378
Gnomadrs1057517378
Varsomers1057517378
LitVarrs1057517378
Maprs1057517378
PheGenIrs1057517378
Biobankrs1057517378
1000 genomesrs1057517378
hgdprs1057517378
ensemblrs1057517378
geneviewrs1057517378
scholarrs1057517378
googlers1057517378
pharmgkbrs1057517378
gwascentralrs1057517378
openSNPrs1057517378
23andMers1057517378
23andMe allrs1057517378
SNPshotrs1057517378
SNPdbers1057517378
MSV3drs1057517378
GWAS Ctlgrs1057517378
Max Magnitude0
ClinVar
Risk rs1057517378(A;A)
Alt rs1057517378(A;A)
Reference Rs1057517378(TAG;TAG)
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.51777375_51777377delCTAinsT
CLNSRC
CLNACC RCV000411392.1,