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rs1057516283

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516283(-;-)
Make rs1057516283(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52033167
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516283
dbSNP (old)rs1057516283
ClinGenrs1057516283
ebirs1057516283
HLIrs1057516283
Exacrs1057516283
Gnomadrs1057516283
Varsomers1057516283
Maprs1057516283
PheGenIrs1057516283
Biobankrs1057516283
1000 genomesrs1057516283
hgdprs1057516283
ensemblrs1057516283
gopubmedrs1057516283
geneviewrs1057516283
scholarrs1057516283
googlers1057516283
pharmgkbrs1057516283
gwascentralrs1057516283
openSNPrs1057516283
23andMers1057516283
23andMe allrs1057516283
SNPshotrs1057516283
SNPdbers1057516283
MSV3drs1057516283
GWAS Ctlgrs1057516283
Max Magnitude0
ClinVar
Risk rs1057516283(-;-)
Alt rs1057516283(-;-)
Reference Rs1057516283(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.51897965delT
CLNSRC
CLNACC RCV000410533.1,