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rs104886286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886286(C;T)
Make rs104886286(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108692924
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886286
ebirs104886286
HLIrs104886286
Exacrs104886286
Varsomers104886286
Maprs104886286
PheGenIrs104886286
hapmaprs104886286
1000 genomesrs104886286
hgdprs104886286
ensemblrs104886286
gopubmedrs104886286
geneviewrs104886286
scholarrs104886286
googlers104886286
pharmgkbrs104886286
gwascentralrs104886286
openSNPrs104886286
23andMers104886286
23andMe allrs104886286
SNP Nexus

SNPshotrs104886286
SNPdbers104886286
MSV3drs104886286
GWAS Ctlgrs104886286
Max Magnitude0
ClinVar
Risk rs104886286(T;T)
Alt rs104886286(T;T)
Reference rs104886286(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107936154C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021634.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso