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rs1057516706

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516706(A;T)
Make rs1057516706(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51909439
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516706
dbSNP (old)rs1057516706
ClinGenrs1057516706
ebirs1057516706
HLIrs1057516706
Exacrs1057516706
Gnomadrs1057516706
Varsomers1057516706
Maprs1057516706
PheGenIrs1057516706
Biobankrs1057516706
1000 genomesrs1057516706
hgdprs1057516706
ensemblrs1057516706
gopubmedrs1057516706
geneviewrs1057516706
scholarrs1057516706
googlers1057516706
pharmgkbrs1057516706
gwascentralrs1057516706
openSNPrs1057516706
23andMers1057516706
23andMe allrs1057516706
SNPshotrs1057516706
SNPdbers1057516706
MSV3drs1057516706
GWAS Ctlgrs1057516706
Max Magnitude0
ClinVar
Risk rs1057516706(T;T)
Alt rs1057516706(T;T)
Reference Rs1057516706(A;A)
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.51774237T>A
CLNSRC
CLNACC RCV000409143.1,