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rs281874751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281874751(-;-)
Make rs281874751(-;T)
Make rs281874751(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108695405
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874751
ebirs281874751
HLIrs281874751
Exacrs281874751
Varsomers281874751
Maprs281874751
PheGenIrs281874751
hapmaprs281874751
1000 genomesrs281874751
hgdprs281874751
ensemblrs281874751
gopubmedrs281874751
geneviewrs281874751
scholarrs281874751
googlers281874751
pharmgkbrs281874751
gwascentralrs281874751
openSNPrs281874751
23andMers281874751
23andMe allrs281874751
SNP Nexus

SNPshotrs281874751
SNPdbers281874751
MSV3drs281874751
GWAS Ctlgrs281874751
Max Magnitude0
ClinVar
Risk rs281874751(T;T)
Alt rs281874751(T;T)
Reference rs281874751(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938635dupT
CLNSRC ClinVar
CLNACC RCV000032090.1,


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