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rs1060499702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 5 Polycystic Kidney Disease (predicted)
(C;C) 0 common in clinvar


Make rs1060499702(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2108743
GeneMIR6511B1, PKD1
is asnp
is mentioned by
dbSNPrs1060499702
dbSNP (old)rs1060499702
ClinGenrs1060499702
ebirs1060499702
HLIrs1060499702
Exacrs1060499702
Gnomadrs1060499702
Varsomers1060499702
LitVarrs1060499702
Maprs1060499702
PheGenIrs1060499702
Biobankrs1060499702
1000 genomesrs1060499702
hgdprs1060499702
ensemblrs1060499702
gopubmedrs1060499702
geneviewrs1060499702
scholarrs1060499702
googlers1060499702
pharmgkbrs1060499702
gwascentralrs1060499702
openSNPrs1060499702
23andMers1060499702
23andMe allrs1060499702
SNPshotrs1060499702
SNPdbers1060499702
MSV3drs1060499702
GWAS Ctlgrs1060499702
Max Magnitude5

c.6424delC (p.Gln2142Argfs)

Listed in ClinVar as pathogenic for autosomal dominant polycystic kidney disease

ClinVar
Risk rs1060499702(-;-)
Alt rs1060499702(-;-)
Reference Rs1060499702(C;C)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene MIR6511B1 PKD1
CLNDBN Polycystic kidney disease, adult type
Reversed 1
HGVS NC_000016.9:g.2158744delG
CLNSRC
CLNACC RCV000449609.1,