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rs199476096

From SNPedia

Polycystic Kidney disease
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Polycystic Kidney Disease (predicted)
Make rs199476096(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2091806
GeneLOC105371049, MIR1225, PKD1
is asnp
is mentioned by
dbSNPrs199476096
dbSNP (old)rs199476096
ClinGenrs199476096
ebirs199476096
HLIrs199476096
Exacrs199476096
Gnomadrs199476096
Varsomers199476096
Maprs199476096
PheGenIrs199476096
Biobankrs199476096
1000 genomesrs199476096
hgdprs199476096
ensemblrs199476096
gopubmedrs199476096
geneviewrs199476096
scholarrs199476096
googlers199476096
pharmgkbrs199476096
gwascentralrs199476096
openSNPrs199476096
23andMers199476096
23andMe allrs199476096
SNPshotrs199476096
SNPdbers199476096
MSV3drs199476096
GWAS Ctlgrs199476096
Max Magnitude5

Polycystic Kidney disease; see OMIM 601313.0005

NM_001009944.2:c.11512C>T

The variant allele of this SNP is considered either "definitely pathogenic" or "highly likely pathogenic" for autosomal dominant polycystic kidney disease in the PKD Foundation database.

ClinVar
Risk rs199476096(T;T)
Alt rs199476096(T;T)
Reference Rs199476096(C;C)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKD1 MIR1225 LOC105371049
CLNDBN Polycystic kidney disease, adult type
Reversed 1
HGVS NC_000016.9:g.2141807G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008682.3,