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rs281874755

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874755(A;A)
Make rs281874755(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108573646
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874755
ebirs281874755
HLIrs281874755
Exacrs281874755
Varsomers281874755
Maprs281874755
PheGenIrs281874755
hapmaprs281874755
1000 genomesrs281874755
hgdprs281874755
ensemblrs281874755
gopubmedrs281874755
geneviewrs281874755
scholarrs281874755
googlers281874755
pharmgkbrs281874755
gwascentralrs281874755
openSNPrs281874755
23andMers281874755
23andMe allrs281874755
SNP Nexus

SNPshotrs281874755
SNPdbers281874755
MSV3drs281874755
GWAS Ctlgrs281874755
Max Magnitude0
ClinVar
Risk rs281874755(A;A)
Alt rs281874755(A;A)
Reference rs281874755(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107816876G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021160.1,


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