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rs104886290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886290(G;T)
Make rs104886290(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694875
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886290
ebirs104886290
HLIrs104886290
Exacrs104886290
Varsomers104886290
Maprs104886290
PheGenIrs104886290
hapmaprs104886290
1000 genomesrs104886290
hgdprs104886290
ensemblrs104886290
gopubmedrs104886290
geneviewrs104886290
scholarrs104886290
googlers104886290
pharmgkbrs104886290
gwascentralrs104886290
openSNPrs104886290
23andMers104886290
23andMe allrs104886290
SNP Nexus

SNPshotrs104886290
SNPdbers104886290
MSV3drs104886290
GWAS Ctlgrs104886290
Max Magnitude0
ClinVar
Risk rs104886290(T;T)
Alt rs104886290(T;T)
Reference rs104886290(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938105G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021646.1,


OMIM301050
Desc
Variant
Relatedalso

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