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rs281874749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs281874749(-;-)
Make rs281874749(-;TG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694898
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874749
ebirs281874749
HLIrs281874749
Exacrs281874749
Varsomers281874749
Maprs281874749
PheGenIrs281874749
hapmaprs281874749
1000 genomesrs281874749
hgdprs281874749
ensemblrs281874749
gopubmedrs281874749
geneviewrs281874749
scholarrs281874749
googlers281874749
pharmgkbrs281874749
gwascentralrs281874749
openSNPrs281874749
23andMers281874749
23andMe allrs281874749
SNP Nexus

SNPshotrs281874749
SNPdbers281874749
MSV3drs281874749
GWAS Ctlgrs281874749
Max Magnitude0
ClinVar
Risk rs281874749(;)
Alt rs281874749(;)
Reference rs281874749(TG;TG)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938128_107938129delTG
CLNSRC ClinVar
CLNACC RCV000032089.1,


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