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rs281874667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874667(A;A)
Make rs281874667(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591644
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874667
ebirs281874667
HLIrs281874667
Exacrs281874667
Varsomers281874667
Maprs281874667
PheGenIrs281874667
hapmaprs281874667
1000 genomesrs281874667
hgdprs281874667
ensemblrs281874667
gopubmedrs281874667
geneviewrs281874667
scholarrs281874667
googlers281874667
pharmgkbrs281874667
gwascentralrs281874667
openSNPrs281874667
23andMers281874667
23andMe allrs281874667
SNP Nexus

SNPshotrs281874667
SNPdbers281874667
MSV3drs281874667
GWAS Ctlgrs281874667
Max Magnitude0
ClinVar
Risk rs281874667(A;A)
Alt rs281874667(A;A)
Reference rs281874667(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834874G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021288.1,


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