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rs281874703

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874703(A;A)
Make rs281874703(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621847
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874703
ebirs281874703
HLIrs281874703
Exacrs281874703
Varsomers281874703
Maprs281874703
PheGenIrs281874703
hapmaprs281874703
1000 genomesrs281874703
hgdprs281874703
ensemblrs281874703
gopubmedrs281874703
geneviewrs281874703
scholarrs281874703
googlers281874703
pharmgkbrs281874703
gwascentralrs281874703
openSNPrs281874703
23andMers281874703
23andMe allrs281874703
SNP Nexus

SNPshotrs281874703
SNPdbers281874703
MSV3drs281874703
GWAS Ctlgrs281874703
Max Magnitude0
ClinVar
Risk rs281874703(A;A)
Alt rs281874703(A;A)
Reference rs281874703(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865077G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021436.1,


[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.