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

rs281874753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874753(C;T)
Make rs281874753(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108696340
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874753
ebirs281874753
HLIrs281874753
Exacrs281874753
Varsomers281874753
Maprs281874753
PheGenIrs281874753
hapmaprs281874753
1000 genomesrs281874753
hgdprs281874753
ensemblrs281874753
gopubmedrs281874753
geneviewrs281874753
scholarrs281874753
googlers281874753
pharmgkbrs281874753
gwascentralrs281874753
openSNPrs281874753
23andMers281874753
23andMe allrs281874753
SNP Nexus

SNPshotrs281874753
SNPdbers281874753
MSV3drs281874753
GWAS Ctlgrs281874753
Max Magnitude0
ClinVar
Risk rs281874753(T;T)
Alt rs281874753(T;T)
Reference rs281874753(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107939570C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021665.1,


[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.