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rs104886289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886289(C;C)
Make rs104886289(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694874
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886289
ebirs104886289
HLIrs104886289
Exacrs104886289
Varsomers104886289
Maprs104886289
PheGenIrs104886289
hapmaprs104886289
1000 genomesrs104886289
hgdprs104886289
ensemblrs104886289
gopubmedrs104886289
geneviewrs104886289
scholarrs104886289
googlers104886289
pharmgkbrs104886289
gwascentralrs104886289
openSNPrs104886289
23andMers104886289
23andMe allrs104886289
SNP Nexus

SNPshotrs104886289
SNPdbers104886289
MSV3drs104886289
GWAS Ctlgrs104886289
Max Magnitude0
ClinVar
Risk rs104886289(C;C)
Alt rs104886289(C;C)
Reference rs104886289(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938104T>C
CLNSRC ARUP COL4A5
CLNACC RCV000021645.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.