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rs281874694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874694(-;-)
Make rs281874694(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108614991
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874694
ebirs281874694
HLIrs281874694
Exacrs281874694
Varsomers281874694
Maprs281874694
PheGenIrs281874694
hapmaprs281874694
1000 genomesrs281874694
hgdprs281874694
ensemblrs281874694
gopubmedrs281874694
geneviewrs281874694
scholarrs281874694
googlers281874694
pharmgkbrs281874694
gwascentralrs281874694
openSNPrs281874694
23andMers281874694
23andMe allrs281874694
SNP Nexus

SNPshotrs281874694
SNPdbers281874694
MSV3drs281874694
GWAS Ctlgrs281874694
Max Magnitude0
ClinVar
Risk rs281874694(;)
Alt rs281874694(;)
Reference rs281874694(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858221delC
CLNSRC ClinVar
CLNACC RCV000021407.1,


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