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rs281874710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874710(-;-)
Make rs281874710(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108625734
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874710
ebirs281874710
HLIrs281874710
Exacrs281874710
Varsomers281874710
Maprs281874710
PheGenIrs281874710
hapmaprs281874710
1000 genomesrs281874710
hgdprs281874710
ensemblrs281874710
gopubmedrs281874710
geneviewrs281874710
scholarrs281874710
googlers281874710
pharmgkbrs281874710
gwascentralrs281874710
openSNPrs281874710
23andMers281874710
23andMe allrs281874710
SNP Nexus

SNPshotrs281874710
SNPdbers281874710
MSV3drs281874710
GWAS Ctlgrs281874710
Max Magnitude0
ClinVar
Risk rs281874710(;)
Alt rs281874710(;)
Reference rs281874710(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107868964delC
CLNSRC ClinVar
CLNACC RCV000032077.1,


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