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rs281874687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874687(C;C)
Make rs281874687(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108602981
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874687
ebirs281874687
HLIrs281874687
Exacrs281874687
Varsomers281874687
Maprs281874687
PheGenIrs281874687
hapmaprs281874687
1000 genomesrs281874687
hgdprs281874687
ensemblrs281874687
gopubmedrs281874687
geneviewrs281874687
scholarrs281874687
googlers281874687
pharmgkbrs281874687
gwascentralrs281874687
openSNPrs281874687
23andMers281874687
23andMe allrs281874687
SNP Nexus

SNPshotrs281874687
SNPdbers281874687
MSV3drs281874687
GWAS Ctlgrs281874687
Max Magnitude0
ClinVar
Risk rs281874687(C,T;C,T)
Alt rs281874687(C,T;C,T)
Reference rs281874687(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107846211G>C
CLNSRC ARUP COL4A5
CLNACC RCV000032064.1,


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