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

rs281874686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874686(C;C)
Make rs281874686(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108602972
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874686
ebirs281874686
HLIrs281874686
Exacrs281874686
Varsomers281874686
Maprs281874686
PheGenIrs281874686
hapmaprs281874686
1000 genomesrs281874686
hgdprs281874686
ensemblrs281874686
gopubmedrs281874686
geneviewrs281874686
scholarrs281874686
googlers281874686
pharmgkbrs281874686
gwascentralrs281874686
openSNPrs281874686
23andMers281874686
23andMe allrs281874686
SNP Nexus

SNPshotrs281874686
SNPdbers281874686
MSV3drs281874686
GWAS Ctlgrs281874686
Max Magnitude0
ClinVar
Risk rs281874686(C;C)
Alt rs281874686(C;C)
Reference rs281874686(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107846202G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021372.1,


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