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rs281874731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281874731(-;-)
Make rs281874731(-;C)
Make rs281874731(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108686046
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874731
ebirs281874731
HLIrs281874731
Exacrs281874731
Varsomers281874731
Maprs281874731
PheGenIrs281874731
hapmaprs281874731
1000 genomesrs281874731
hgdprs281874731
ensemblrs281874731
gopubmedrs281874731
geneviewrs281874731
scholarrs281874731
googlers281874731
pharmgkbrs281874731
gwascentralrs281874731
openSNPrs281874731
23andMers281874731
23andMe allrs281874731
SNP Nexus

SNPshotrs281874731
SNPdbers281874731
MSV3drs281874731
GWAS Ctlgrs281874731
Max Magnitude0
ClinVar
Risk rs281874731(C;C)
Alt rs281874731(C;C)
Reference rs281874731(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107929276dupC
CLNSRC ClinVar
CLNACC RCV000021596.1,


[PMID 10955921] Sporadic case of X-chromosomal Alport syndrome in a consanguineous family.