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rs281874674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874674(G;T)
Make rs281874674(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597479
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874674
ebirs281874674
HLIrs281874674
Exacrs281874674
Varsomers281874674
Maprs281874674
PheGenIrs281874674
hapmaprs281874674
1000 genomesrs281874674
hgdprs281874674
ensemblrs281874674
gopubmedrs281874674
geneviewrs281874674
scholarrs281874674
googlers281874674
pharmgkbrs281874674
gwascentralrs281874674
openSNPrs281874674
23andMers281874674
23andMe allrs281874674
SNP Nexus

SNPshotrs281874674
SNPdbers281874674
MSV3drs281874674
GWAS Ctlgrs281874674
Max Magnitude0
ClinVar
Risk rs281874674(C,T;C,T)
Alt rs281874674(C,T;C,T)
Reference rs281874674(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840709G>C; NC_000023.10:g.107840709G>T
CLNSRC Dhiti Omics Technologies Pvt. Ltd. ARUP COL4A5
CLNACC RCV000233994.1, RCV000021315.1,


[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.