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rs281874691

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281874691(A;G)
Make rs281874691(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606891
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874691
ebirs281874691
HLIrs281874691
Exacrs281874691
Varsomers281874691
Maprs281874691
PheGenIrs281874691
hapmaprs281874691
1000 genomesrs281874691
hgdprs281874691
ensemblrs281874691
gopubmedrs281874691
geneviewrs281874691
scholarrs281874691
googlers281874691
pharmgkbrs281874691
gwascentralrs281874691
openSNPrs281874691
23andMers281874691
23andMe allrs281874691
SNP Nexus

SNPshotrs281874691
SNPdbers281874691
MSV3drs281874691
GWAS Ctlgrs281874691
Max Magnitude0
ClinVar
Risk rs281874691(G;G)
Alt rs281874691(G;G)
Reference rs281874691(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850121A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021393.1,


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