Have questions? Visit https://www.reddit.com/r/SNPedia

rs11677877

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common on affy axiom data
Make rs11677877(A;G)
Make rs11677877(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position227266453
GeneCOL4A3, PAPPA
is asnp
is mentioned by
dbSNPrs11677877
ebirs11677877
HLIrs11677877
Exacrs11677877
Varsomers11677877
Maprs11677877
PheGenIrs11677877
hapmaprs11677877
1000 genomesrs11677877
hgdprs11677877
ensemblrs11677877
gopubmedrs11677877
geneviewrs11677877
scholarrs11677877
googlers11677877
pharmgkbrs11677877
gwascentralrs11677877
openSNPrs11677877
23andMers11677877
23andMe allrs11677877
SNP Nexus

SNPshotrs11677877
SNPdbers11677877
MSV3drs11677877
GWAS Ctlgrs11677877
GMAF0.1015
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene COL4A3
allele G
frequency 0.033
sift TOLERATED
HuRef 1103658384860
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-H451R
aa_change His451Arg
aa_change_short H451R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.073726
summary