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rs281874764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874764(-;-)
Make rs281874764(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580540
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874764
ebirs281874764
HLIrs281874764
Exacrs281874764
Varsomers281874764
Maprs281874764
PheGenIrs281874764
hapmaprs281874764
1000 genomesrs281874764
hgdprs281874764
ensemblrs281874764
gopubmedrs281874764
geneviewrs281874764
scholarrs281874764
googlers281874764
pharmgkbrs281874764
gwascentralrs281874764
openSNPrs281874764
23andMers281874764
23andMe allrs281874764
SNP Nexus

SNPshotrs281874764
SNPdbers281874764
MSV3drs281874764
GWAS Ctlgrs281874764
Max Magnitude0
ClinVar
Risk rs281874764(;)
Alt rs281874764(;)
Reference rs281874764(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823770delC
CLNSRC ClinVar
CLNACC RCV000032055.1,


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