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rs281874715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874715(G;T)
Make rs281874715(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108665588
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874715
ebirs281874715
HLIrs281874715
Exacrs281874715
Varsomers281874715
Maprs281874715
PheGenIrs281874715
hapmaprs281874715
1000 genomesrs281874715
hgdprs281874715
ensemblrs281874715
gopubmedrs281874715
geneviewrs281874715
scholarrs281874715
googlers281874715
pharmgkbrs281874715
gwascentralrs281874715
openSNPrs281874715
23andMers281874715
23andMe allrs281874715
SNP Nexus

SNPshotrs281874715
SNPdbers281874715
MSV3drs281874715
GWAS Ctlgrs281874715
Max Magnitude0
ClinVar
Risk rs281874715(T;T)
Alt rs281874715(T;T)
Reference rs281874715(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107908818G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021511.1,


[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.