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rs1057516626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs1057516626(-;-)
Make rs1057516626(-;AT)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52024987
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516626
dbSNP (old)rs1057516626
ClinGenrs1057516626
ebirs1057516626
HLIrs1057516626
Exacrs1057516626
Gnomadrs1057516626
Varsomers1057516626
LitVarrs1057516626
Maprs1057516626
PheGenIrs1057516626
Biobankrs1057516626
1000 genomesrs1057516626
hgdprs1057516626
ensemblrs1057516626
gopubmedrs1057516626
geneviewrs1057516626
scholarrs1057516626
googlers1057516626
pharmgkbrs1057516626
gwascentralrs1057516626
openSNPrs1057516626
23andMers1057516626
23andMe allrs1057516626
SNPshotrs1057516626
SNPdbers1057516626
MSV3drs1057516626
GWAS Ctlgrs1057516626
Max Magnitude0
ClinVar
Risk rs1057516626(-;-)
Alt rs1057516626(-;-)
Reference Rs1057516626(AT;AT)
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.51889785_51889786delAT
CLNSRC
CLNACC RCV000410637.1,