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rs281874739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874739(A;A)
Make rs281874739(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108571471
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874739
ebirs281874739
HLIrs281874739
Exacrs281874739
Varsomers281874739
Maprs281874739
PheGenIrs281874739
hapmaprs281874739
1000 genomesrs281874739
hgdprs281874739
ensemblrs281874739
gopubmedrs281874739
geneviewrs281874739
scholarrs281874739
googlers281874739
pharmgkbrs281874739
gwascentralrs281874739
openSNPrs281874739
23andMers281874739
23andMe allrs281874739
SNP Nexus

SNPshotrs281874739
SNPdbers281874739
MSV3drs281874739
GWAS Ctlgrs281874739
Max Magnitude0
ClinVar
Risk rs281874739(A;A)
Alt rs281874739(A;A)
Reference rs281874739(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107814701G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021149.1,


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