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rs104886389

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886389(G;T)
Make rs104886389(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108666513
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886389
ebirs104886389
HLIrs104886389
Exacrs104886389
Varsomers104886389
Maprs104886389
PheGenIrs104886389
hapmaprs104886389
1000 genomesrs104886389
hgdprs104886389
ensemblrs104886389
gopubmedrs104886389
geneviewrs104886389
scholarrs104886389
googlers104886389
pharmgkbrs104886389
gwascentralrs104886389
openSNPrs104886389
23andMers104886389
23andMe allrs104886389
SNP Nexus

SNPshotrs104886389
SNPdbers104886389
MSV3drs104886389
GWAS Ctlgrs104886389
Max Magnitude0
ClinVar
Risk rs104886389(T;T)
Alt rs104886389(T;T)
Reference rs104886389(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909743G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021513.1,


[PMID 10561141] Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.