Have questions? Visit https://www.reddit.com/r/SNPedia

rs199476094

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Polycystic Kidney Disease (predicted)
Make rs199476094(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2090688
GeneLOC105371049, MIR1225, PKD1
is asnp
is mentioned by
dbSNPrs199476094
dbSNP (classic)rs199476094
ClinGenrs199476094
ebirs199476094
HLIrs199476094
Exacrs199476094
Gnomadrs199476094
Varsomers199476094
LitVarrs199476094
Maprs199476094
PheGenIrs199476094
Biobankrs199476094
1000 genomesrs199476094
hgdprs199476094
ensemblrs199476094
geneviewrs199476094
scholarrs199476094
googlers199476094
pharmgkbrs199476094
gwascentralrs199476094
openSNPrs199476094
23andMers199476094
SNPshotrs199476094
SNPdbers199476094
MSV3drs199476094
GWAS Ctlgrs199476094
Max Magnitude5

Polycystic Kidney disease; see OMIM 601313.0002

NM_001009944.2:c.12124C>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 rs199476094(T;T)
Alt rs199476094(T;T)
Reference Rs199476094(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.2140689G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008679.2,