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rs281874721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874721(G;T)
Make rs281874721(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668436
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874721
ebirs281874721
HLIrs281874721
Exacrs281874721
Varsomers281874721
Maprs281874721
PheGenIrs281874721
hapmaprs281874721
1000 genomesrs281874721
hgdprs281874721
ensemblrs281874721
gopubmedrs281874721
geneviewrs281874721
scholarrs281874721
googlers281874721
pharmgkbrs281874721
gwascentralrs281874721
openSNPrs281874721
23andMers281874721
23andMe allrs281874721
SNP Nexus

SNPshotrs281874721
SNPdbers281874721
MSV3drs281874721
GWAS Ctlgrs281874721
Max Magnitude0
ClinVar
Risk rs281874721(T;T)
Alt rs281874721(T;T)
Reference rs281874721(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911666G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021556.1,


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