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rs281874742

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281874742(-;-)
Make rs281874742(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108692750
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874742
ebirs281874742
HLIrs281874742
Exacrs281874742
Varsomers281874742
Maprs281874742
PheGenIrs281874742
hapmaprs281874742
1000 genomesrs281874742
hgdprs281874742
ensemblrs281874742
gopubmedrs281874742
geneviewrs281874742
scholarrs281874742
googlers281874742
pharmgkbrs281874742
gwascentralrs281874742
openSNPrs281874742
23andMers281874742
23andMe allrs281874742
SNP Nexus

SNPshotrs281874742
SNPdbers281874742
MSV3drs281874742
GWAS Ctlgrs281874742
Max Magnitude0
ClinVar
Risk rs281874742(;)
Alt rs281874742(;)
Reference rs281874742(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107935980delA
CLNSRC ClinVar
CLNACC RCV000021625.1,


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