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rs281874673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874673(A;A)
Make rs281874673(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597432
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874673
ebirs281874673
HLIrs281874673
Exacrs281874673
Varsomers281874673
Maprs281874673
PheGenIrs281874673
hapmaprs281874673
1000 genomesrs281874673
hgdprs281874673
ensemblrs281874673
gopubmedrs281874673
geneviewrs281874673
scholarrs281874673
googlers281874673
pharmgkbrs281874673
gwascentralrs281874673
openSNPrs281874673
23andMers281874673
23andMe allrs281874673
SNP Nexus

SNPshotrs281874673
SNPdbers281874673
MSV3drs281874673
GWAS Ctlgrs281874673
Max Magnitude0
ClinVar
Risk rs281874673(A;A)
Alt rs281874673(A;A)
Reference rs281874673(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840662G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021311.1,


[PMID 19919694OA-icon.png] Molecular testing for adult type Alport syndrome.