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rs1057517158

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517158(C;T)
Make rs1057517158(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52050172
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517158
dbSNP (old)rs1057517158
ClinGenrs1057517158
ebirs1057517158
HLIrs1057517158
Exacrs1057517158
Gnomadrs1057517158
Varsomers1057517158
LitVarrs1057517158
Maprs1057517158
PheGenIrs1057517158
Biobankrs1057517158
1000 genomesrs1057517158
hgdprs1057517158
ensemblrs1057517158
gopubmedrs1057517158
geneviewrs1057517158
scholarrs1057517158
googlers1057517158
pharmgkbrs1057517158
gwascentralrs1057517158
openSNPrs1057517158
23andMers1057517158
23andMe allrs1057517158
SNPshotrs1057517158
SNPdbers1057517158
MSV3drs1057517158
GWAS Ctlgrs1057517158
Max Magnitude0
ClinVar
Risk rs1057517158(T;T)
Alt rs1057517158(T;T)
Reference Rs1057517158(C;C)
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.51914970G>A
CLNSRC
CLNACC RCV000408967.1,