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rs281874727

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874727(C;T)
Make rs281874727(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108681837
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874727
ebirs281874727
HLIrs281874727
Exacrs281874727
Varsomers281874727
Maprs281874727
PheGenIrs281874727
hapmaprs281874727
1000 genomesrs281874727
hgdprs281874727
ensemblrs281874727
gopubmedrs281874727
geneviewrs281874727
scholarrs281874727
googlers281874727
pharmgkbrs281874727
gwascentralrs281874727
openSNPrs281874727
23andMers281874727
23andMe allrs281874727
SNP Nexus

SNPshotrs281874727
SNPdbers281874727
MSV3drs281874727
GWAS Ctlgrs281874727
Max Magnitude0
ClinVar
Risk rs281874727(T;T)
Alt rs281874727(T;T)
Reference rs281874727(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107925067C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021586.1,


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


[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.