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rs10178458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 0
Make rs10178458(C;C)
Make rs10178458(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position227246719
GeneCOL4A3, PAPPA
is asnp
is mentioned by
dbSNPrs10178458
ebirs10178458
HLIrs10178458
Exacrs10178458
Varsomers10178458
Maprs10178458
PheGenIrs10178458
hapmaprs10178458
1000 genomesrs10178458
hgdprs10178458
ensemblrs10178458
gopubmedrs10178458
geneviewrs10178458
scholarrs10178458
googlers10178458
pharmgkbrs10178458
gwascentralrs10178458
openSNPrs10178458
23andMers10178458
23andMe allrs10178458
SNP Nexus

SNPshotrs10178458
SNPdbers10178458
MSV3drs10178458
GWAS Ctlgrs10178458
GMAF0.191
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene COL4A3
allele C
frequency
sift TOLERATED
HuRef 1103658384823
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-L141P
aa_change Leu141Pro
aa_change_short L141P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.774173
summary