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rs281874692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874692(G;T)
Make rs281874692(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108614988
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874692
ebirs281874692
HLIrs281874692
Exacrs281874692
Varsomers281874692
Maprs281874692
PheGenIrs281874692
hapmaprs281874692
1000 genomesrs281874692
hgdprs281874692
ensemblrs281874692
gopubmedrs281874692
geneviewrs281874692
scholarrs281874692
googlers281874692
pharmgkbrs281874692
gwascentralrs281874692
openSNPrs281874692
23andMers281874692
23andMe allrs281874692
SNP Nexus

SNPshotrs281874692
SNPdbers281874692
MSV3drs281874692
GWAS Ctlgrs281874692
Max Magnitude0
ClinVar
Risk rs281874692(T;T)
Alt rs281874692(T;T)
Reference rs281874692(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858218G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021405.1,


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