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rs1057516922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516922(-;-)
Make rs1057516922(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52033081
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516922
dbSNP (old)rs1057516922
ClinGenrs1057516922
ebirs1057516922
HLIrs1057516922
Exacrs1057516922
Gnomadrs1057516922
Varsomers1057516922
LitVarrs1057516922
Maprs1057516922
PheGenIrs1057516922
Biobankrs1057516922
1000 genomesrs1057516922
hgdprs1057516922
ensemblrs1057516922
gopubmedrs1057516922
geneviewrs1057516922
scholarrs1057516922
googlers1057516922
pharmgkbrs1057516922
gwascentralrs1057516922
openSNPrs1057516922
23andMers1057516922
23andMe allrs1057516922
SNPshotrs1057516922
SNPdbers1057516922
MSV3drs1057516922
GWAS Ctlgrs1057516922
Max Magnitude0
ClinVar
Risk rs1057516922(-;-)
Alt rs1057516922(-;-)
Reference Rs1057516922(T;T)
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.51897879delA
CLNSRC
CLNACC RCV000412211.1,