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rs281874655

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281874655(-;-)
Make rs281874655(-;A)
Make rs281874655(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586642
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874655
ebirs281874655
HLIrs281874655
Exacrs281874655
Varsomers281874655
Maprs281874655
PheGenIrs281874655
hapmaprs281874655
1000 genomesrs281874655
hgdprs281874655
ensemblrs281874655
gopubmedrs281874655
geneviewrs281874655
scholarrs281874655
googlers281874655
pharmgkbrs281874655
gwascentralrs281874655
openSNPrs281874655
23andMers281874655
23andMe allrs281874655
SNP Nexus

SNPshotrs281874655
SNPdbers281874655
MSV3drs281874655
GWAS Ctlgrs281874655
Max Magnitude0
ClinVar
Risk rs281874655(A;A)
Alt rs281874655(A;A)
Reference rs281874655(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829872dupA
CLNSRC ClinVar
CLNACC RCV000021239.1,


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