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rs1057516345

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516345(C;G)
Make rs1057516345(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51659417
GeneLOC105375087, PKHD1
is asnp
is mentioned by
dbSNPrs1057516345
dbSNP (old)rs1057516345
ClinGenrs1057516345
ebirs1057516345
HLIrs1057516345
Exacrs1057516345
Gnomadrs1057516345
Varsomers1057516345
Maprs1057516345
PheGenIrs1057516345
Biobankrs1057516345
1000 genomesrs1057516345
hgdprs1057516345
ensemblrs1057516345
gopubmedrs1057516345
geneviewrs1057516345
scholarrs1057516345
googlers1057516345
pharmgkbrs1057516345
gwascentralrs1057516345
openSNPrs1057516345
23andMers1057516345
23andMe allrs1057516345
SNPshotrs1057516345
SNPdbers1057516345
MSV3drs1057516345
GWAS Ctlgrs1057516345
Max Magnitude0
ClinVar
Risk rs1057516345(G;G)
Alt rs1057516345(G;G)
Reference Rs1057516345(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.51524215G>C
CLNSRC
CLNACC RCV000410089.1,