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rs1057517387

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517387(-;-)
Make rs1057517387(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51748658
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057517387
dbSNP (old)rs1057517387
ClinGenrs1057517387
ebirs1057517387
HLIrs1057517387
Exacrs1057517387
Gnomadrs1057517387
Varsomers1057517387
LitVarrs1057517387
Maprs1057517387
PheGenIrs1057517387
Biobankrs1057517387
1000 genomesrs1057517387
hgdprs1057517387
ensemblrs1057517387
gopubmedrs1057517387
geneviewrs1057517387
scholarrs1057517387
googlers1057517387
pharmgkbrs1057517387
gwascentralrs1057517387
openSNPrs1057517387
23andMers1057517387
23andMe allrs1057517387
SNPshotrs1057517387
SNPdbers1057517387
MSV3drs1057517387
GWAS Ctlgrs1057517387
Max Magnitude0
ClinVar
Risk rs1057517387(-;-)
Alt rs1057517387(-;-)
Reference Rs1057517387(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.51613456delA
CLNSRC
CLNACC RCV000409789.1,