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rs1057516441

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516441(C;T)
Make rs1057516441(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51903683
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516441
dbSNP (classic)rs1057516441
ClinGenrs1057516441
ebirs1057516441
HLIrs1057516441
Exacrs1057516441
Gnomadrs1057516441
Varsomers1057516441
LitVarrs1057516441
Maprs1057516441
PheGenIrs1057516441
Biobankrs1057516441
1000 genomesrs1057516441
hgdprs1057516441
ensemblrs1057516441
geneviewrs1057516441
scholarrs1057516441
googlers1057516441
pharmgkbrs1057516441
gwascentralrs1057516441
openSNPrs1057516441
23andMers1057516441
23andMe allrs1057516441
SNPshotrs1057516441
SNPdbers1057516441
MSV3drs1057516441
GWAS Ctlgrs1057516441
Max Magnitude0
ClinVar
Risk rs1057516441(T;T)
Alt rs1057516441(T;T)
Reference Rs1057516441(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.51768481G>A
CLNSRC
CLNACC RCV000409558.1,