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rs281874741

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874741(C;T)
Make rs281874741(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687685
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874741
ebirs281874741
HLIrs281874741
Exacrs281874741
Varsomers281874741
Maprs281874741
PheGenIrs281874741
hapmaprs281874741
1000 genomesrs281874741
hgdprs281874741
ensemblrs281874741
gopubmedrs281874741
geneviewrs281874741
scholarrs281874741
googlers281874741
pharmgkbrs281874741
gwascentralrs281874741
openSNPrs281874741
23andMers281874741
23andMe allrs281874741
SNP Nexus

SNPshotrs281874741
SNPdbers281874741
MSV3drs281874741
GWAS Ctlgrs281874741
Max Magnitude0
ClinVar
Risk rs281874741(T;T)
Alt rs281874741(T;T)
Reference rs281874741(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930915C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021622.1,


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