Have questions? Visit https://www.reddit.com/r/SNPedia

rs104886373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs104886373(-;-)
Make rs104886373(-;AG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108624246
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886373
ebirs104886373
HLIrs104886373
Exacrs104886373
Varsomers104886373
Maprs104886373
PheGenIrs104886373
hapmaprs104886373
1000 genomesrs104886373
hgdprs104886373
ensemblrs104886373
gopubmedrs104886373
geneviewrs104886373
scholarrs104886373
googlers104886373
pharmgkbrs104886373
gwascentralrs104886373
openSNPrs104886373
23andMers104886373
23andMe allrs104886373
SNP Nexus

SNPshotrs104886373
SNPdbers104886373
MSV3drs104886373
GWAS Ctlgrs104886373
Max Magnitude0
ClinVar
Risk rs104886373(;)
Alt rs104886373(;)
Reference rs104886373(AG;AG)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107867476_107867477delAG
CLNSRC
CLNACC


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.