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rs1057516775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516775(-;-)
Make rs1057516775(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51836415
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516775
dbSNP (classic)rs1057516775
ClinGenrs1057516775
ebirs1057516775
HLIrs1057516775
Exacrs1057516775
Gnomadrs1057516775
Varsomers1057516775
LitVarrs1057516775
Maprs1057516775
PheGenIrs1057516775
Biobankrs1057516775
1000 genomesrs1057516775
hgdprs1057516775
ensemblrs1057516775
geneviewrs1057516775
scholarrs1057516775
googlers1057516775
pharmgkbrs1057516775
gwascentralrs1057516775
openSNPrs1057516775
23andMers1057516775
23andMe allrs1057516775
SNPshotrs1057516775
SNPdbers1057516775
MSV3drs1057516775
GWAS Ctlgrs1057516775
Max Magnitude0
ClinVar
Risk rs1057516775(-;-)
Alt rs1057516775(-;-)
Reference Rs1057516775(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.51701213delG
CLNSRC
CLNACC RCV000410738.1,