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rs281874766

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874766(-;-)
Make rs281874766(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580713
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874766
ebirs281874766
HLIrs281874766
Exacrs281874766
Varsomers281874766
Maprs281874766
PheGenIrs281874766
hapmaprs281874766
1000 genomesrs281874766
hgdprs281874766
ensemblrs281874766
gopubmedrs281874766
geneviewrs281874766
scholarrs281874766
googlers281874766
pharmgkbrs281874766
gwascentralrs281874766
openSNPrs281874766
23andMers281874766
23andMe allrs281874766
SNP Nexus

SNPshotrs281874766
SNPdbers281874766
MSV3drs281874766
GWAS Ctlgrs281874766
Max Magnitude0
ClinVar
Risk rs281874766(;)
Alt rs281874766(;)
Reference rs281874766(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823943delG
CLNSRC ClinVar
CLNACC RCV000021209.1,


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