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rs104886328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886328(-;-)
Make rs104886328(-;C)
Make rs104886328(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591701
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886328
ebirs104886328
HLIrs104886328
Exacrs104886328
Varsomers104886328
Maprs104886328
PheGenIrs104886328
hapmaprs104886328
1000 genomesrs104886328
hgdprs104886328
ensemblrs104886328
gopubmedrs104886328
geneviewrs104886328
scholarrs104886328
googlers104886328
pharmgkbrs104886328
gwascentralrs104886328
openSNPrs104886328
23andMers104886328
23andMe allrs104886328
SNP Nexus

SNPshotrs104886328
SNPdbers104886328
MSV3drs104886328
GWAS Ctlgrs104886328
Max Magnitude0
ClinVar
Risk rs104886328(C;C)
Alt rs104886328(C;C)
Reference rs104886328(;)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834931dupC
CLNSRC
CLNACC


[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.