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rs281874705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874705(C;T)
Make rs281874705(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108622690
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874705
ebirs281874705
HLIrs281874705
Exacrs281874705
Varsomers281874705
Maprs281874705
PheGenIrs281874705
hapmaprs281874705
1000 genomesrs281874705
hgdprs281874705
ensemblrs281874705
gopubmedrs281874705
geneviewrs281874705
scholarrs281874705
googlers281874705
pharmgkbrs281874705
gwascentralrs281874705
openSNPrs281874705
23andMers281874705
23andMe allrs281874705
SNP Nexus

SNPshotrs281874705
SNPdbers281874705
MSV3drs281874705
GWAS Ctlgrs281874705
Max Magnitude0
ClinVar
Risk rs281874705(T;T)
Alt rs281874705(T;T)
Reference rs281874705(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865920C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021443.1,


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