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rs281874711

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874711(-;-)
Make rs281874711(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626270
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874711
ebirs281874711
HLIrs281874711
Exacrs281874711
Varsomers281874711
Maprs281874711
PheGenIrs281874711
hapmaprs281874711
1000 genomesrs281874711
hgdprs281874711
ensemblrs281874711
gopubmedrs281874711
geneviewrs281874711
scholarrs281874711
googlers281874711
pharmgkbrs281874711
gwascentralrs281874711
openSNPrs281874711
23andMers281874711
23andMe allrs281874711
SNP Nexus

SNPshotrs281874711
SNPdbers281874711
MSV3drs281874711
GWAS Ctlgrs281874711
Max Magnitude0
ClinVar
Risk rs281874711(;)
Alt rs281874711(;)
Reference rs281874711(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869500delC
CLNSRC ClinVar
CLNACC RCV000021476.1,


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