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rs281874769

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874769(A;A)
Make rs281874769(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108582907
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874769
ebirs281874769
HLIrs281874769
Exacrs281874769
Varsomers281874769
Maprs281874769
PheGenIrs281874769
hapmaprs281874769
1000 genomesrs281874769
hgdprs281874769
ensemblrs281874769
gopubmedrs281874769
geneviewrs281874769
scholarrs281874769
googlers281874769
pharmgkbrs281874769
gwascentralrs281874769
openSNPrs281874769
23andMers281874769
23andMe allrs281874769
SNP Nexus

SNPshotrs281874769
SNPdbers281874769
MSV3drs281874769
GWAS Ctlgrs281874769
Max Magnitude0
ClinVar
Risk rs281874769(A;A)
Alt rs281874769(A;A)
Reference rs281874769(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107826137C>A
CLNSRC ARUP COL4A5
CLNACC RCV000021228.1,


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