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rs281874659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281874659(-;-)
Make rs281874659(-;A)
Make rs281874659(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591105
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874659
ebirs281874659
HLIrs281874659
Exacrs281874659
Varsomers281874659
Maprs281874659
PheGenIrs281874659
hapmaprs281874659
1000 genomesrs281874659
hgdprs281874659
ensemblrs281874659
gopubmedrs281874659
geneviewrs281874659
scholarrs281874659
googlers281874659
pharmgkbrs281874659
gwascentralrs281874659
openSNPrs281874659
23andMers281874659
23andMe allrs281874659
SNP Nexus

SNPshotrs281874659
SNPdbers281874659
MSV3drs281874659
GWAS Ctlgrs281874659
Max Magnitude0
ClinVar
Risk rs281874659(A;A)
Alt rs281874659(A;A)
Reference rs281874659(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834335dupA
CLNSRC ClinVar
CLNACC RCV000021259.1,


[PMID 19965530OA-icon.png] Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.


[PMID 19965532OA-icon.png] Ultrasound-guided femoral dialysis access placement: a single-center randomized trial.