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rs281874745

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281874745(C;C)
Make rs281874745(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694808
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874745
ebirs281874745
HLIrs281874745
Exacrs281874745
Varsomers281874745
Maprs281874745
PheGenIrs281874745
hapmaprs281874745
1000 genomesrs281874745
hgdprs281874745
ensemblrs281874745
gopubmedrs281874745
geneviewrs281874745
scholarrs281874745
googlers281874745
pharmgkbrs281874745
gwascentralrs281874745
openSNPrs281874745
23andMers281874745
23andMe allrs281874745
SNP Nexus

SNPshotrs281874745
SNPdbers281874745
MSV3drs281874745
GWAS Ctlgrs281874745
Max Magnitude0
ClinVar
Risk rs281874745(C;C)
Alt rs281874745(C;C)
Reference Rs281874745(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938038T>C
CLNSRC ARUP COL4A5
CLNACC RCV000021635.1,


[PMID 19919694OA-icon.png] Molecular testing for adult type Alport syndrome.