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

rs281874672

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874672(A;A)
Make rs281874672(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597387
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874672
ebirs281874672
HLIrs281874672
Exacrs281874672
Varsomers281874672
Maprs281874672
PheGenIrs281874672
hapmaprs281874672
1000 genomesrs281874672
hgdprs281874672
ensemblrs281874672
gopubmedrs281874672
geneviewrs281874672
scholarrs281874672
googlers281874672
pharmgkbrs281874672
gwascentralrs281874672
openSNPrs281874672
23andMers281874672
23andMe allrs281874672
SNP Nexus

SNPshotrs281874672
SNPdbers281874672
MSV3drs281874672
GWAS Ctlgrs281874672
Max Magnitude0
ClinVar
Risk rs281874672(A;A)
Alt rs281874672(A;A)
Reference rs281874672(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840617G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021307.1,


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