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rs199476101

From SNPedia

Polycystic Kidney disease
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Polycystic Kidney disease
Make rs199476101(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2109403
GenePKD1
is asnp
is mentioned by
dbSNPrs199476101
ebirs199476101
HLIrs199476101
Exacrs199476101
Varsomers199476101
Maprs199476101
PheGenIrs199476101
hapmaprs199476101
1000 genomesrs199476101
hgdprs199476101
ensemblrs199476101
gopubmedrs199476101
geneviewrs199476101
scholarrs199476101
googlers199476101
pharmgkbrs199476101
gwascentralrs199476101
openSNPrs199476101
23andMers199476101
23andMe allrs199476101
SNP Nexus

SNPshotrs199476101
SNPdbers199476101
MSV3drs199476101
GWAS Ctlgrs199476101
Max Magnitude4
Polycystic Kidney disease; see OMIM 601313.0013
ClinVar
Risk rs199476101(T;T)
Alt rs199476101(T;T)
Reference rs199476101(C;C)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKD1
CLNDBN Polycystic kidney disease, adult type
Reversed 1
HGVS NC_000016.9:g.2159404G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008690.3,