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rs281874747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874747(C;T)
Make rs281874747(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694869
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874747
ebirs281874747
HLIrs281874747
Exacrs281874747
Varsomers281874747
Maprs281874747
PheGenIrs281874747
hapmaprs281874747
1000 genomesrs281874747
hgdprs281874747
ensemblrs281874747
gopubmedrs281874747
geneviewrs281874747
scholarrs281874747
googlers281874747
pharmgkbrs281874747
gwascentralrs281874747
openSNPrs281874747
23andMers281874747
23andMe allrs281874747
SNP Nexus

SNPshotrs281874747
SNPdbers281874747
MSV3drs281874747
GWAS Ctlgrs281874747
Max Magnitude0
ClinVar
Risk rs281874747(T;T)
Alt rs281874747(T;T)
Reference rs281874747(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938099C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021644.1,


[PMID 19919694OA-icon.png] Molecular testing for adult type Alport syndrome.