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rs40433

From SNPedia

Orientationminus
Stabilizedminus
Make rs40433(A;A)
Make rs40433(A;G)
Make rs40433(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position2114807
GenePKD1
is asnp
is mentioned by
dbSNPrs40433
ebirs40433
HLIrs40433
Exacrs40433
Varsomers40433
Maprs40433
PheGenIrs40433
hapmaprs40433
1000 genomesrs40433
hgdprs40433
ensemblrs40433
gopubmedrs40433
geneviewrs40433
scholarrs40433
googlers40433
pharmgkbrs40433
gwascentralrs40433
openSNPrs40433
23andMers40433
23andMe allrs40433
SNP Nexus

SNPshotrs40433
SNPdbers40433
MSV3drs40433
GWAS Ctlgrs40433
GMAF0.09275
Max Magnitude
This SNP is in the PKD1 gene. It's pathogenicity (if any) is unclear.


Venter snp
Source plos
Gene PKD1
allele T
frequency
sift TOLERATED
HuRef 1103645402376
Disease Association Defects in PKD1 are the cause of autosomal dominant polycystic kidney disease type I (ADPKD) (MIM:173900); a common autosomal dominant genetic disease affecting about 1 out 1'000 individuals. ADPKD is characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end- stage renal disease in adult life. Cysts also occurs in the liver and other organs.



GET Evidence
PKD1-R739Q
aa_change Arg739Gln
aa_change_short R739Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.874413
summary