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rs281874718

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281874718(-;-)
Make rs281874718(-;C)
Make rs281874718(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668406
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874718
ebirs281874718
HLIrs281874718
Exacrs281874718
Varsomers281874718
Maprs281874718
PheGenIrs281874718
hapmaprs281874718
1000 genomesrs281874718
hgdprs281874718
ensemblrs281874718
gopubmedrs281874718
geneviewrs281874718
scholarrs281874718
googlers281874718
pharmgkbrs281874718
gwascentralrs281874718
openSNPrs281874718
23andMers281874718
23andMe allrs281874718
SNP Nexus

SNPshotrs281874718
SNPdbers281874718
MSV3drs281874718
GWAS Ctlgrs281874718
Max Magnitude0
ClinVar
Risk rs281874718(C;C)
Alt rs281874718(C;C)
Reference rs281874718(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911636dupC
CLNSRC ClinVar
CLNACC RCV000021549.1,


[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.