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rs1057516751

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516751(G;T)
Make rs1057516751(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51867900
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516751
dbSNP (old)rs1057516751
ClinGenrs1057516751
ebirs1057516751
HLIrs1057516751
Exacrs1057516751
Gnomadrs1057516751
Varsomers1057516751
Maprs1057516751
PheGenIrs1057516751
Biobankrs1057516751
1000 genomesrs1057516751
hgdprs1057516751
ensemblrs1057516751
gopubmedrs1057516751
geneviewrs1057516751
scholarrs1057516751
googlers1057516751
pharmgkbrs1057516751
gwascentralrs1057516751
openSNPrs1057516751
23andMers1057516751
23andMe allrs1057516751
SNPshotrs1057516751
SNPdbers1057516751
MSV3drs1057516751
GWAS Ctlgrs1057516751
Max Magnitude0
ClinVar
Risk rs1057516751(T;T)
Alt rs1057516751(T;T)
Reference Rs1057516751(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.51732698C>A
CLNSRC
CLNACC RCV000412217.1,