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

rs281874761

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281874761(G;G)
Make rs281874761(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578097
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874761
ebirs281874761
HLIrs281874761
Exacrs281874761
Varsomers281874761
Maprs281874761
PheGenIrs281874761
hapmaprs281874761
1000 genomesrs281874761
hgdprs281874761
ensemblrs281874761
gopubmedrs281874761
geneviewrs281874761
scholarrs281874761
googlers281874761
pharmgkbrs281874761
gwascentralrs281874761
openSNPrs281874761
23andMers281874761
23andMe allrs281874761
SNP Nexus

SNPshotrs281874761
SNPdbers281874761
MSV3drs281874761
GWAS Ctlgrs281874761
Max Magnitude0
ClinVar
Risk rs281874761(G;G)
Alt rs281874761(G;G)
Reference rs281874761(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821327T>G
CLNSRC ARUP COL4A5
CLNACC RCV000032053.1,


[PMID 20881942OA-icon.png] Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption.