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rs281874676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874676(C;T)
Make rs281874676(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597527
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874676
ebirs281874676
HLIrs281874676
Exacrs281874676
Varsomers281874676
Maprs281874676
PheGenIrs281874676
hapmaprs281874676
1000 genomesrs281874676
hgdprs281874676
ensemblrs281874676
gopubmedrs281874676
geneviewrs281874676
scholarrs281874676
googlers281874676
pharmgkbrs281874676
gwascentralrs281874676
openSNPrs281874676
23andMers281874676
23andMe allrs281874676
SNP Nexus

SNPshotrs281874676
SNPdbers281874676
MSV3drs281874676
GWAS Ctlgrs281874676
Max Magnitude0
ClinVar
Risk rs281874676(T;T)
Alt rs281874676(T;T)
Reference rs281874676(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840757C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021321.1,


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