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

rs281874679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874679(C;C)
Make rs281874679(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597571
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874679
ebirs281874679
HLIrs281874679
Exacrs281874679
Varsomers281874679
Maprs281874679
PheGenIrs281874679
hapmaprs281874679
1000 genomesrs281874679
hgdprs281874679
ensemblrs281874679
gopubmedrs281874679
geneviewrs281874679
scholarrs281874679
googlers281874679
pharmgkbrs281874679
gwascentralrs281874679
openSNPrs281874679
23andMers281874679
23andMe allrs281874679
SNP Nexus

SNPshotrs281874679
SNPdbers281874679
MSV3drs281874679
GWAS Ctlgrs281874679
Max Magnitude0
ClinVar
Risk rs281874679(C;C)
Alt rs281874679(C;C)
Reference rs281874679(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840801G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021325.1,


[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.