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rs104886093

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886093(G;T)
Make rs104886093(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108584494
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886093
ebirs104886093
HLIrs104886093
Exacrs104886093
Varsomers104886093
Maprs104886093
PheGenIrs104886093
hapmaprs104886093
1000 genomesrs104886093
hgdprs104886093
ensemblrs104886093
gopubmedrs104886093
geneviewrs104886093
scholarrs104886093
googlers104886093
pharmgkbrs104886093
gwascentralrs104886093
openSNPrs104886093
23andMers104886093
23andMe allrs104886093
SNP Nexus

SNPshotrs104886093
SNPdbers104886093
MSV3drs104886093
GWAS Ctlgrs104886093
Max Magnitude0
ClinVar
Risk rs104886093(T;T)
Alt rs104886093(T;T)
Reference rs104886093(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107827724G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021234.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 18616531] MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.