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rs34505188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs34505188(A;A)
Make rs34505188(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position227263852
GeneCOL4A3, PAPPA
is asnp
is mentioned by
dbSNPrs34505188
ebirs34505188
HLIrs34505188
Exacrs34505188
Varsomers34505188
Maprs34505188
PheGenIrs34505188
hapmaprs34505188
1000 genomesrs34505188
hgdprs34505188
ensemblrs34505188
gopubmedrs34505188
geneviewrs34505188
scholarrs34505188
googlers34505188
pharmgkbrs34505188
gwascentralrs34505188
openSNPrs34505188
23andMers34505188
23andMe allrs34505188
SNP Nexus

SNPshotrs34505188
SNPdbers34505188
MSV3drs34505188
GWAS Ctlgrs34505188
GMAF0.09642
Max Magnitude0
Venter snp
Source plos
Gene COL4A3
allele A
frequency
sift TOLERATED
HuRef 1103658384867
Disease Association Defects in COL4A3 are a cause of autosomal recessive Alport syndrome (AS) (MIM:203780). AS is an hereditary disorder characterized by progressive glomerulonephritis, renal failure, hematuria, ocular abnormalities and deafness. The recessive form occurs equally between males and females.



GET Evidence
COL4A3-R408H
aa_change Arg408His
aa_change_short R408H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0631765
summary