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rs104886422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTCAGA;AGTCAGA) 0 common in clinvar
Make rs104886422(-;-)
Make rs104886422(-;AGTCAGA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694850
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886422
ebirs104886422
HLIrs104886422
Exacrs104886422
Varsomers104886422
Maprs104886422
PheGenIrs104886422
hapmaprs104886422
1000 genomesrs104886422
hgdprs104886422
ensemblrs104886422
gopubmedrs104886422
geneviewrs104886422
scholarrs104886422
googlers104886422
pharmgkbrs104886422
gwascentralrs104886422
openSNPrs104886422
23andMers104886422
23andMe allrs104886422
SNP Nexus

SNPshotrs104886422
SNPdbers104886422
MSV3drs104886422
GWAS Ctlgrs104886422
Max Magnitude0
ClinVar
Risk rs104886422(;)
Alt rs104886422(;)
Reference rs104886422(AGTCAGA;AGTCAGA)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938080_107938086delAGTCAGA
CLNSRC
CLNACC


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