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rs34197769

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34197769(A;A)
Make rs34197769(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position2094175
GenePKD1
is asnp
is mentioned by
dbSNPrs34197769
ebirs34197769
HLIrs34197769
Exacrs34197769
Varsomers34197769
Maprs34197769
PheGenIrs34197769
hapmaprs34197769
1000 genomesrs34197769
hgdprs34197769
ensemblrs34197769
gopubmedrs34197769
geneviewrs34197769
scholarrs34197769
googlers34197769
pharmgkbrs34197769
gwascentralrs34197769
openSNPrs34197769
23andMers34197769
23andMe allrs34197769
SNP Nexus

SNPshotrs34197769
SNPdbers34197769
MSV3drs34197769
GWAS Ctlgrs34197769
GMAF0.06841
Max Magnitude0
This SNP, also known as Ala3512Val, is in the PKD1 gene. It is likely to be a neutral change without known medical consequences according to ClinVar.


Venter snp
Source plos
Gene PKD1
allele A
frequency
sift TOLERATED
HuRef 1103645402316
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-A3512V
aa_change Ala3512Val
aa_change_short A3512V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0950829
summary