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

rs104886406

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886406(-;-)
Make rs104886406(-;C)
Make rs104886406(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108681868
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886406
ebirs104886406
HLIrs104886406
Exacrs104886406
Varsomers104886406
Maprs104886406
PheGenIrs104886406
hapmaprs104886406
1000 genomesrs104886406
hgdprs104886406
ensemblrs104886406
gopubmedrs104886406
geneviewrs104886406
scholarrs104886406
googlers104886406
pharmgkbrs104886406
gwascentralrs104886406
openSNPrs104886406
23andMers104886406
23andMe allrs104886406
SNP Nexus

SNPshotrs104886406
SNPdbers104886406
MSV3drs104886406
GWAS Ctlgrs104886406
Max Magnitude0
ClinVar
Risk rs104886406(C;C)
Alt rs104886406(C;C)
Reference rs104886406(;)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107925098_107925099insC
CLNSRC
CLNACC


[PMID 12105244] Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.