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rs199476102

From SNPedia

Polycystic Kidney disease
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 5 Polycystic Kidney Disease (predicted)
(G;G) 0 common in clinvar


Make rs199476102(A;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position2090309
GeneLOC105371049, MIR1225, PKD1
is asnp
is mentioned by
dbSNPrs199476102
dbSNP (classic)rs199476102
ClinGenrs199476102
ebirs199476102
HLIrs199476102
Exacrs199476102
Gnomadrs199476102
Varsomers199476102
LitVarrs199476102
Maprs199476102
PheGenIrs199476102
Biobankrs199476102
1000 genomesrs199476102
hgdprs199476102
ensemblrs199476102
geneviewrs199476102
scholarrs199476102
googlers199476102
pharmgkbrs199476102
gwascentralrs199476102
openSNPrs199476102
23andMers199476102
SNPshotrs199476102
SNPdbers199476102
MSV3drs199476102
GWAS Ctlgrs199476102
Max Magnitude5

Polycystic Kidney disease; see OMIM 601313.0015

NM_001009944.2:c.12420G>A

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 rs199476102(A;A)
Alt rs199476102(A;A)
Reference Rs199476102(G;G)
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.2140310C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008692.3,