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rs104886357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886357(G;G)
Make rs104886357(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620249
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886357
ebirs104886357
HLIrs104886357
Exacrs104886357
Varsomers104886357
Maprs104886357
PheGenIrs104886357
hapmaprs104886357
1000 genomesrs104886357
hgdprs104886357
ensemblrs104886357
gopubmedrs104886357
geneviewrs104886357
scholarrs104886357
googlers104886357
pharmgkbrs104886357
gwascentralrs104886357
openSNPrs104886357
23andMers104886357
23andMe allrs104886357
SNP Nexus

SNPshotrs104886357
SNPdbers104886357
MSV3drs104886357
GWAS Ctlgrs104886357
Max Magnitude0
ClinVar
Risk rs104886357(G;G)
Alt rs104886357(G;G)
Reference rs104886357(T;T)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863479T>G
CLNSRC
CLNACC


[PMID 12436246] Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.