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rs281874707

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281874707(-;-)
Make rs281874707(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108624258
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874707
ebirs281874707
HLIrs281874707
Exacrs281874707
Varsomers281874707
Maprs281874707
PheGenIrs281874707
hapmaprs281874707
1000 genomesrs281874707
hgdprs281874707
ensemblrs281874707
gopubmedrs281874707
geneviewrs281874707
scholarrs281874707
googlers281874707
pharmgkbrs281874707
gwascentralrs281874707
openSNPrs281874707
23andMers281874707
23andMe allrs281874707
SNP Nexus

SNPshotrs281874707
SNPdbers281874707
MSV3drs281874707
GWAS Ctlgrs281874707
Max Magnitude0
ClinVar
Risk rs281874707(;)
Alt rs281874707(;)
Reference rs281874707(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107867491delA
CLNSRC ClinVar
CLNACC RCV000021458.2,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.