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rs281874668

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281874668(A;A)
Make rs281874668(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108595489
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874668
ebirs281874668
HLIrs281874668
Exacrs281874668
Varsomers281874668
Maprs281874668
PheGenIrs281874668
hapmaprs281874668
1000 genomesrs281874668
hgdprs281874668
ensemblrs281874668
gopubmedrs281874668
geneviewrs281874668
scholarrs281874668
googlers281874668
pharmgkbrs281874668
gwascentralrs281874668
openSNPrs281874668
23andMers281874668
23andMe allrs281874668
SNP Nexus

SNPshotrs281874668
SNPdbers281874668
MSV3drs281874668
GWAS Ctlgrs281874668
Max Magnitude0
ClinVar
Risk rs281874668(A;A)
Alt rs281874668(A;A)
Reference rs281874668(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107838719T>A
CLNSRC ARUP COL4A5
CLNACC RCV000021291.1,


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