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rs281874729

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874729(-;-)
Make rs281874729(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108681865
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874729
ebirs281874729
HLIrs281874729
Exacrs281874729
Varsomers281874729
Maprs281874729
PheGenIrs281874729
hapmaprs281874729
1000 genomesrs281874729
hgdprs281874729
ensemblrs281874729
gopubmedrs281874729
geneviewrs281874729
scholarrs281874729
googlers281874729
pharmgkbrs281874729
gwascentralrs281874729
openSNPrs281874729
23andMers281874729
23andMe allrs281874729
SNP Nexus

SNPshotrs281874729
SNPdbers281874729
MSV3drs281874729
GWAS Ctlgrs281874729
Max Magnitude0
ClinVar
Risk rs281874729(;)
Alt rs281874729(;)
Reference rs281874729(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107925097delC
CLNSRC ClinVar
CLNACC RCV000021591.2,


[PMID 19919694OA-icon.png] Molecular testing for adult type Alport syndrome.