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rs1057517178

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517178(-;-)
Make rs1057517178(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position52059956
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517178
dbSNP (old)rs1057517178
ClinGenrs1057517178
ebirs1057517178
HLIrs1057517178
Exacrs1057517178
Gnomadrs1057517178
Varsomers1057517178
Maprs1057517178
PheGenIrs1057517178
Biobankrs1057517178
1000 genomesrs1057517178
hgdprs1057517178
ensemblrs1057517178
gopubmedrs1057517178
geneviewrs1057517178
scholarrs1057517178
googlers1057517178
pharmgkbrs1057517178
gwascentralrs1057517178
openSNPrs1057517178
23andMers1057517178
23andMe allrs1057517178
SNPshotrs1057517178
SNPdbers1057517178
MSV3drs1057517178
GWAS Ctlgrs1057517178
Max Magnitude0
ClinVar
Risk rs1057517178(-;-)
Alt rs1057517178(-;-)
Reference Rs1057517178(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.51924754delA
CLNSRC
CLNACC RCV000410281.1,