Have questions? Visit https://www.reddit.com/r/SNPedia

rs281874689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874689(A;A)
Make rs281874689(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606785
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874689
ebirs281874689
HLIrs281874689
Exacrs281874689
Varsomers281874689
Maprs281874689
PheGenIrs281874689
hapmaprs281874689
1000 genomesrs281874689
hgdprs281874689
ensemblrs281874689
gopubmedrs281874689
geneviewrs281874689
scholarrs281874689
googlers281874689
pharmgkbrs281874689
gwascentralrs281874689
openSNPrs281874689
23andMers281874689
23andMe allrs281874689
SNP Nexus

SNPshotrs281874689
SNPdbers281874689
MSV3drs281874689
GWAS Ctlgrs281874689
Max Magnitude0
ClinVar
Risk rs281874689(A;A)
Alt rs281874689(A;A)
Reference rs281874689(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850015G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021382.1,


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