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rs1057516577

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516577(C;T)
Make rs1057516577(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51747898
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516577
dbSNP (old)rs1057516577
ClinGenrs1057516577
ebirs1057516577
HLIrs1057516577
Exacrs1057516577
Gnomadrs1057516577
Varsomers1057516577
Maprs1057516577
PheGenIrs1057516577
Biobankrs1057516577
1000 genomesrs1057516577
hgdprs1057516577
ensemblrs1057516577
gopubmedrs1057516577
geneviewrs1057516577
scholarrs1057516577
googlers1057516577
pharmgkbrs1057516577
gwascentralrs1057516577
openSNPrs1057516577
23andMers1057516577
23andMe allrs1057516577
SNPshotrs1057516577
SNPdbers1057516577
MSV3drs1057516577
GWAS Ctlgrs1057516577
Max Magnitude0
ClinVar
Risk rs1057516577(T;T)
Alt rs1057516577(T;T)
Reference Rs1057516577(C;C)
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.51612696G>A
CLNSRC
CLNACC RCV000411085.1,