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rs281874754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874754(G;T)
Make rs281874754(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108696362
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874754
ebirs281874754
HLIrs281874754
Exacrs281874754
Varsomers281874754
Maprs281874754
PheGenIrs281874754
hapmaprs281874754
1000 genomesrs281874754
hgdprs281874754
ensemblrs281874754
gopubmedrs281874754
geneviewrs281874754
scholarrs281874754
googlers281874754
pharmgkbrs281874754
gwascentralrs281874754
openSNPrs281874754
23andMers281874754
23andMe allrs281874754
SNP Nexus

SNPshotrs281874754
SNPdbers281874754
MSV3drs281874754
GWAS Ctlgrs281874754
Max Magnitude0
ClinVar
Risk rs281874754(T;T)
Alt rs281874754(T;T)
Reference rs281874754(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107939592G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021672.1,


[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.