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rs1057516221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516221(C;T)
Make rs1057516221(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51887158
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516221
dbSNP (old)rs1057516221
ClinGenrs1057516221
ebirs1057516221
HLIrs1057516221
Exacrs1057516221
Gnomadrs1057516221
Varsomers1057516221
Maprs1057516221
PheGenIrs1057516221
Biobankrs1057516221
1000 genomesrs1057516221
hgdprs1057516221
ensemblrs1057516221
gopubmedrs1057516221
geneviewrs1057516221
scholarrs1057516221
googlers1057516221
pharmgkbrs1057516221
gwascentralrs1057516221
openSNPrs1057516221
23andMers1057516221
23andMe allrs1057516221
SNPshotrs1057516221
SNPdbers1057516221
MSV3drs1057516221
GWAS Ctlgrs1057516221
Max Magnitude0
ClinVar
Risk rs1057516221(T;T)
Alt rs1057516221(T;T)
Reference Rs1057516221(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.51751956G>A
CLNSRC
CLNACC RCV000410291.1,