Rs10178458

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is asnp
is mentioned by
dbSNPrs10178458
hapmaprs10178458
hgdprs10178458
ensemblrs10178458
gopubmedrs10178458
scholarrs10178458
googlers10178458
pharmgkbrs10178458
hgvbaseg2prs10178458
medrefsnprs10178458
23andMers10178458
SNP Nexus

GeneCOL4A3
Chromosome2
Orientationplus
Position227819678
GenotypeEffect
rs10178458(C;C)*?
rs10178458(C;T)
rs10178458(T;T)*?


Genotypes Magnitude Summary
Rs10178458(C;T) 00


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.



? (C;C) (C;T) (T;T)