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rs281874743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874743(A;A)
Make rs281874743(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108692925
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874743
ebirs281874743
HLIrs281874743
Exacrs281874743
Varsomers281874743
Maprs281874743
PheGenIrs281874743
hapmaprs281874743
1000 genomesrs281874743
hgdprs281874743
ensemblrs281874743
gopubmedrs281874743
geneviewrs281874743
scholarrs281874743
googlers281874743
pharmgkbrs281874743
gwascentralrs281874743
openSNPrs281874743
23andMers281874743
23andMe allrs281874743
SNP Nexus

SNPshotrs281874743
SNPdbers281874743
MSV3drs281874743
GWAS Ctlgrs281874743
Max Magnitude0
ClinVar
Risk rs281874743(A;A)
Alt rs281874743(A;A)
Reference rs281874743(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107936155G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021636.1,


[PMID 12105244] Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.