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rs281874706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874706(A;A)
Make rs281874706(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108568638
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874706
ebirs281874706
HLIrs281874706
Exacrs281874706
Varsomers281874706
Maprs281874706
PheGenIrs281874706
hapmaprs281874706
1000 genomesrs281874706
hgdprs281874706
ensemblrs281874706
gopubmedrs281874706
geneviewrs281874706
scholarrs281874706
googlers281874706
pharmgkbrs281874706
gwascentralrs281874706
openSNPrs281874706
23andMers281874706
23andMe allrs281874706
SNP Nexus

SNPshotrs281874706
SNPdbers281874706
MSV3drs281874706
GWAS Ctlgrs281874706
Max Magnitude0
ClinVar
Risk rs281874706(A;A)
Alt rs281874706(A;A)
Reference rs281874706(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107811868G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021136.1,


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