Have questions? Visit https://www.reddit.com/r/SNPedia

rs281874746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874746(A;A)
Make rs281874746(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694820
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874746
ebirs281874746
HLIrs281874746
Exacrs281874746
Varsomers281874746
Maprs281874746
PheGenIrs281874746
hapmaprs281874746
1000 genomesrs281874746
hgdprs281874746
ensemblrs281874746
gopubmedrs281874746
geneviewrs281874746
scholarrs281874746
googlers281874746
pharmgkbrs281874746
gwascentralrs281874746
openSNPrs281874746
23andMers281874746
23andMe allrs281874746
SNP Nexus

SNPshotrs281874746
SNPdbers281874746
MSV3drs281874746
GWAS Ctlgrs281874746
Max Magnitude0
ClinVar
Risk rs281874746(A;A)
Alt rs281874746(A;A)
Reference rs281874746(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938050G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021642.1,


[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.