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rs281874724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874724(C;C)
Make rs281874724(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108677633
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874724
ebirs281874724
HLIrs281874724
Exacrs281874724
Varsomers281874724
Maprs281874724
PheGenIrs281874724
hapmaprs281874724
1000 genomesrs281874724
hgdprs281874724
ensemblrs281874724
gopubmedrs281874724
geneviewrs281874724
scholarrs281874724
googlers281874724
pharmgkbrs281874724
gwascentralrs281874724
openSNPrs281874724
23andMers281874724
23andMe allrs281874724
SNP Nexus

SNPshotrs281874724
SNPdbers281874724
MSV3drs281874724
GWAS Ctlgrs281874724
Max Magnitude0
ClinVar
Risk rs281874724(C;C)
Alt rs281874724(C;C)
Reference rs281874724(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107920863G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021568.1,


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