Have questions? Visit https://www.reddit.com/r/SNPedia

rs281874658

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874658(-;-)
Make rs281874658(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591073
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874658
ebirs281874658
HLIrs281874658
Exacrs281874658
Varsomers281874658
Maprs281874658
PheGenIrs281874658
hapmaprs281874658
1000 genomesrs281874658
hgdprs281874658
ensemblrs281874658
gopubmedrs281874658
geneviewrs281874658
scholarrs281874658
googlers281874658
pharmgkbrs281874658
gwascentralrs281874658
openSNPrs281874658
23andMers281874658
23andMe allrs281874658
SNP Nexus

SNPshotrs281874658
SNPdbers281874658
MSV3drs281874658
GWAS Ctlgrs281874658
Max Magnitude0
ClinVar
Risk rs281874658(;)
Alt rs281874658(;)
Reference rs281874658(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834303delG
CLNSRC ClinVar
CLNACC RCV000021255.1,


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