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rs281874657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874657(C;T)
Make rs281874657(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586717
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874657
ebirs281874657
HLIrs281874657
Exacrs281874657
Varsomers281874657
Maprs281874657
PheGenIrs281874657
hapmaprs281874657
1000 genomesrs281874657
hgdprs281874657
ensemblrs281874657
gopubmedrs281874657
geneviewrs281874657
scholarrs281874657
googlers281874657
pharmgkbrs281874657
gwascentralrs281874657
openSNPrs281874657
23andMers281874657
23andMe allrs281874657
SNP Nexus

SNPshotrs281874657
SNPdbers281874657
MSV3drs281874657
GWAS Ctlgrs281874657
Max Magnitude0
ClinVar
Risk rs281874657(T;T)
Alt rs281874657(T;T)
Reference rs281874657(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829947C>T
CLNSRC ARUP COL4A5
CLNACC RCV000032056.1,


[PMID 21848006] Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.