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rs281874693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACCACCAGG;ACCACCAGG) 0 common in clinvar
(GGACCACCA;GGACCACCA) 0 common in clinvar
Make rs281874693(-;-)
Make rs281874693(-;ACCACCAGG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108614990
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874693
ebirs281874693
HLIrs281874693
Exacrs281874693
Varsomers281874693
Maprs281874693
PheGenIrs281874693
hapmaprs281874693
1000 genomesrs281874693
hgdprs281874693
ensemblrs281874693
gopubmedrs281874693
geneviewrs281874693
scholarrs281874693
googlers281874693
pharmgkbrs281874693
gwascentralrs281874693
openSNPrs281874693
23andMers281874693
23andMe allrs281874693
SNP Nexus

SNPshotrs281874693
SNPdbers281874693
MSV3drs281874693
GWAS Ctlgrs281874693
Max Magnitude0
ClinVar
Risk rs281874693(;)
Alt rs281874693(;)
Reference rs281874693(GGACCACCA;GGACCACCA)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858220_107858228delACCACCAGG
CLNSRC ClinVar
CLNACC RCV000021406.2,


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