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rs281874733

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874733(A;A)
Make rs281874733(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108686103
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874733
ebirs281874733
HLIrs281874733
Exacrs281874733
Varsomers281874733
Maprs281874733
PheGenIrs281874733
hapmaprs281874733
1000 genomesrs281874733
hgdprs281874733
ensemblrs281874733
gopubmedrs281874733
geneviewrs281874733
scholarrs281874733
googlers281874733
pharmgkbrs281874733
gwascentralrs281874733
openSNPrs281874733
23andMers281874733
23andMe allrs281874733
SNP Nexus

SNPshotrs281874733
SNPdbers281874733
MSV3drs281874733
GWAS Ctlgrs281874733
Max Magnitude0
ClinVar
Risk rs281874733(A;A)
Alt rs281874733(A;A)
Reference rs281874733(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107929333G>A
CLNSRC ARUP COL4A5
CLNACC RCV000032084.1,


[PMID 21143337] Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China.