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rs281874661

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874661(C;T)
Make rs281874661(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591111
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874661
ebirs281874661
HLIrs281874661
Exacrs281874661
Varsomers281874661
Maprs281874661
PheGenIrs281874661
hapmaprs281874661
1000 genomesrs281874661
hgdprs281874661
ensemblrs281874661
gopubmedrs281874661
geneviewrs281874661
scholarrs281874661
googlers281874661
pharmgkbrs281874661
gwascentralrs281874661
openSNPrs281874661
23andMers281874661
23andMe allrs281874661
SNP Nexus

SNPshotrs281874661
SNPdbers281874661
MSV3drs281874661
GWAS Ctlgrs281874661
Max Magnitude0
ClinVar
Risk rs281874661(T;T)
Alt rs281874661(T;T)
Reference rs281874661(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834341C>T
CLNSRC ClinVar
CLNACC RCV000021263.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.