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rs281874722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874722(A;A)
Make rs281874722(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108571413
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874722
ebirs281874722
HLIrs281874722
Exacrs281874722
Varsomers281874722
Maprs281874722
PheGenIrs281874722
hapmaprs281874722
1000 genomesrs281874722
hgdprs281874722
ensemblrs281874722
gopubmedrs281874722
geneviewrs281874722
scholarrs281874722
googlers281874722
pharmgkbrs281874722
gwascentralrs281874722
openSNPrs281874722
23andMers281874722
23andMe allrs281874722
SNP Nexus

SNPshotrs281874722
SNPdbers281874722
MSV3drs281874722
GWAS Ctlgrs281874722
Max Magnitude0
ClinVar
Risk rs281874722(A;A)
Alt rs281874722(A;A)
Reference rs281874722(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107814643G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021143.1,


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