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rs6436669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 0
Make rs6436669(A;A)
Make rs6436669(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position227248459
GeneCOL4A3, PAPPA
is asnp
is mentioned by
dbSNPrs6436669
ebirs6436669
HLIrs6436669
Exacrs6436669
Varsomers6436669
Maprs6436669
PheGenIrs6436669
hapmaprs6436669
1000 genomesrs6436669
hgdprs6436669
ensemblrs6436669
gopubmedrs6436669
geneviewrs6436669
scholarrs6436669
googlers6436669
pharmgkbrs6436669
gwascentralrs6436669
openSNPrs6436669
23andMers6436669
23andMe allrs6436669
SNP Nexus

SNPshotrs6436669
SNPdbers6436669
MSV3drs6436669
GWAS Ctlgrs6436669
GMAF0.191
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene COL4A3
allele G
frequency 0.858
sift TOLERATED
HuRef 1103658384830
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.



[PMID 20029656OA-icon.png] Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.


GET Evidence
COL4A3-E162G
aa_change Glu162Gly
aa_change_short E162G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.773521
summary