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rs1057516975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516975(-;-)
Make rs1057516975(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52058426
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516975
dbSNP (old)rs1057516975
ClinGenrs1057516975
ebirs1057516975
HLIrs1057516975
Exacrs1057516975
Gnomadrs1057516975
Varsomers1057516975
Maprs1057516975
PheGenIrs1057516975
Biobankrs1057516975
1000 genomesrs1057516975
hgdprs1057516975
ensemblrs1057516975
gopubmedrs1057516975
geneviewrs1057516975
scholarrs1057516975
googlers1057516975
pharmgkbrs1057516975
gwascentralrs1057516975
openSNPrs1057516975
23andMers1057516975
23andMe allrs1057516975
SNPshotrs1057516975
SNPdbers1057516975
MSV3drs1057516975
GWAS Ctlgrs1057516975
Max Magnitude0
ClinVar
Risk rs1057516975(-;-)
Alt rs1057516975(-;-)
Reference Rs1057516975(G;G)
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.51923224delC
CLNSRC
CLNACC RCV000410716.1,