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rs1057516413

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516413(-;CCAT)
Make rs1057516413(CCAT;CCAT)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51748142
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516413
dbSNP (old)rs1057516413
ClinGenrs1057516413
ebirs1057516413
HLIrs1057516413
Exacrs1057516413
Gnomadrs1057516413
Varsomers1057516413
LitVarrs1057516413
Maprs1057516413
PheGenIrs1057516413
Biobankrs1057516413
1000 genomesrs1057516413
hgdprs1057516413
ensemblrs1057516413
gopubmedrs1057516413
geneviewrs1057516413
scholarrs1057516413
googlers1057516413
pharmgkbrs1057516413
gwascentralrs1057516413
openSNPrs1057516413
23andMers1057516413
23andMe allrs1057516413
SNPshotrs1057516413
SNPdbers1057516413
MSV3drs1057516413
GWAS Ctlgrs1057516413
Max Magnitude0
ClinVar
Risk rs1057516413(CCAT;CCAT)
Alt rs1057516413(CCAT;CCAT)
Reference Rs1057516413(-;-)
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.51612941_51612944dupATGG
CLNSRC
CLNACC RCV000409842.1,