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rs1057517249

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517249(-;T)
Make rs1057517249(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51659926
GeneLOC105375087, PKHD1
is asnp
is mentioned by
dbSNPrs1057517249
dbSNP (old)rs1057517249
ClinGenrs1057517249
ebirs1057517249
HLIrs1057517249
Exacrs1057517249
Gnomadrs1057517249
Varsomers1057517249
Maprs1057517249
PheGenIrs1057517249
Biobankrs1057517249
1000 genomesrs1057517249
hgdprs1057517249
ensemblrs1057517249
gopubmedrs1057517249
geneviewrs1057517249
scholarrs1057517249
googlers1057517249
pharmgkbrs1057517249
gwascentralrs1057517249
openSNPrs1057517249
23andMers1057517249
23andMe allrs1057517249
SNPshotrs1057517249
SNPdbers1057517249
MSV3drs1057517249
GWAS Ctlgrs1057517249
Max Magnitude0
ClinVar
Risk rs1057517249(T;T)
Alt rs1057517249(T;T)
Reference Rs1057517249(-;-)
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.51524725dupA
CLNSRC
CLNACC RCV000411566.1,