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rs281874698

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874698(C;C)
Make rs281874698(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620372
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874698
ebirs281874698
HLIrs281874698
Exacrs281874698
Varsomers281874698
Maprs281874698
PheGenIrs281874698
hapmaprs281874698
1000 genomesrs281874698
hgdprs281874698
ensemblrs281874698
gopubmedrs281874698
geneviewrs281874698
scholarrs281874698
googlers281874698
pharmgkbrs281874698
gwascentralrs281874698
openSNPrs281874698
23andMers281874698
23andMe allrs281874698
SNP Nexus

SNPshotrs281874698
SNPdbers281874698
MSV3drs281874698
GWAS Ctlgrs281874698
Max Magnitude0
ClinVar
Risk rs281874698(C;C)
Alt rs281874698(C;C)
Reference rs281874698(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863602G>C
CLNSRC ARUP COL4A5
CLNACC RCV000032069.1,


[PMID 21505094] Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.