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rs1057516690

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516690(-;-)
Make rs1057516690(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51855938
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516690
dbSNP (old)rs1057516690
ClinGenrs1057516690
ebirs1057516690
HLIrs1057516690
Exacrs1057516690
Gnomadrs1057516690
Varsomers1057516690
LitVarrs1057516690
Maprs1057516690
PheGenIrs1057516690
Biobankrs1057516690
1000 genomesrs1057516690
hgdprs1057516690
ensemblrs1057516690
gopubmedrs1057516690
geneviewrs1057516690
scholarrs1057516690
googlers1057516690
pharmgkbrs1057516690
gwascentralrs1057516690
openSNPrs1057516690
23andMers1057516690
23andMe allrs1057516690
SNPshotrs1057516690
SNPdbers1057516690
MSV3drs1057516690
GWAS Ctlgrs1057516690
Max Magnitude0
ClinVar
Risk rs1057516690(-;-)
Alt rs1057516690(-;-)
Reference Rs1057516690(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.51720736delG
CLNSRC
CLNACC RCV000410553.1,