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rs281874763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874763(A;A)
Make rs281874763(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578292
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874763
dbSNP (old)rs281874763
ClinGenrs281874763
ebirs281874763
HLIrs281874763
Exacrs281874763
Gnomadrs281874763
Varsomers281874763
Maprs281874763
PheGenIrs281874763
Biobankrs281874763
1000 genomesrs281874763
hgdprs281874763
ensemblrs281874763
gopubmedrs281874763
geneviewrs281874763
scholarrs281874763
googlers281874763
pharmgkbrs281874763
gwascentralrs281874763
openSNPrs281874763
23andMers281874763
23andMe allrs281874763
SNP Nexus

SNPshotrs281874763
SNPdbers281874763
MSV3drs281874763
GWAS Ctlgrs281874763
Max Magnitude0
ClinVar
Risk rs281874763(A;A)
Alt rs281874763(A;A)
Reference Rs281874763(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821522G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021194.1,


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