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rs281874728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874728(G;T)
Make rs281874728(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108681861
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874728
ebirs281874728
HLIrs281874728
Exacrs281874728
Varsomers281874728
Maprs281874728
PheGenIrs281874728
hapmaprs281874728
1000 genomesrs281874728
hgdprs281874728
ensemblrs281874728
gopubmedrs281874728
geneviewrs281874728
scholarrs281874728
googlers281874728
pharmgkbrs281874728
gwascentralrs281874728
openSNPrs281874728
23andMers281874728
23andMe allrs281874728
SNP Nexus

SNPshotrs281874728
SNPdbers281874728
MSV3drs281874728
GWAS Ctlgrs281874728
Max Magnitude0
ClinVar
Risk rs281874728(T;T)
Alt rs281874728(T;T)
Reference rs281874728(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107925091G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021588.1,


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