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rs281874768

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874768(-;-)
Make rs281874768(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580722
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874768
ebirs281874768
HLIrs281874768
Exacrs281874768
Varsomers281874768
Maprs281874768
PheGenIrs281874768
hapmaprs281874768
1000 genomesrs281874768
hgdprs281874768
ensemblrs281874768
gopubmedrs281874768
geneviewrs281874768
scholarrs281874768
googlers281874768
pharmgkbrs281874768
gwascentralrs281874768
openSNPrs281874768
23andMers281874768
23andMe allrs281874768
SNP Nexus

SNPshotrs281874768
SNPdbers281874768
MSV3drs281874768
GWAS Ctlgrs281874768
Max Magnitude0
ClinVar
Risk rs281874768(;)
Alt rs281874768(;)
Reference rs281874768(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823952delG
CLNSRC ClinVar
CLNACC RCV000021213.1,


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