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rs281874752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281874752(A;G)
Make rs281874752(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108696295
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874752
ebirs281874752
HLIrs281874752
Exacrs281874752
Varsomers281874752
Maprs281874752
PheGenIrs281874752
hapmaprs281874752
1000 genomesrs281874752
hgdprs281874752
ensemblrs281874752
gopubmedrs281874752
geneviewrs281874752
scholarrs281874752
googlers281874752
pharmgkbrs281874752
gwascentralrs281874752
openSNPrs281874752
23andMers281874752
23andMe allrs281874752
SNP Nexus

SNPshotrs281874752
SNPdbers281874752
MSV3drs281874752
GWAS Ctlgrs281874752
Max Magnitude0
ClinVar
Risk rs281874752(G;G)
Alt rs281874752(G;G)
Reference rs281874752(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107939525A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021663.1,


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