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rs104886091

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886091(A;A)
Make rs104886091(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108582921
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886091
ebirs104886091
HLIrs104886091
Exacrs104886091
Varsomers104886091
Maprs104886091
PheGenIrs104886091
hapmaprs104886091
1000 genomesrs104886091
hgdprs104886091
ensemblrs104886091
gopubmedrs104886091
geneviewrs104886091
scholarrs104886091
googlers104886091
pharmgkbrs104886091
gwascentralrs104886091
openSNPrs104886091
23andMers104886091
23andMe allrs104886091
SNP Nexus

SNPshotrs104886091
SNPdbers104886091
MSV3drs104886091
GWAS Ctlgrs104886091
Max Magnitude0
OMIM303630
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104886091(A;A)
Alt rs104886091(A;A)
Reference rs104886091(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107826151G>A
CLNSRC ARUP COL4A5 OMIM Allelic Variant
CLNACC RCV000011209.3,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.