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rs281874735

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874735(G;T)
Make rs281874735(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687482
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874735
ebirs281874735
HLIrs281874735
Exacrs281874735
Varsomers281874735
Maprs281874735
PheGenIrs281874735
hapmaprs281874735
1000 genomesrs281874735
hgdprs281874735
ensemblrs281874735
gopubmedrs281874735
geneviewrs281874735
scholarrs281874735
googlers281874735
pharmgkbrs281874735
gwascentralrs281874735
openSNPrs281874735
23andMers281874735
23andMe allrs281874735
SNP Nexus

SNPshotrs281874735
SNPdbers281874735
MSV3drs281874735
GWAS Ctlgrs281874735
Max Magnitude0
ClinVar
Risk rs281874735(T;T)
Alt rs281874735(T;T)
Reference rs281874735(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930712G>T
CLNSRC ARUP COL4A5
CLNACC RCV000032086.1,


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