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rs104886316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886316(-;-)
Make rs104886316(-;T)
Make rs104886316(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586644
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886316
ebirs104886316
HLIrs104886316
Exacrs104886316
Varsomers104886316
Maprs104886316
PheGenIrs104886316
hapmaprs104886316
1000 genomesrs104886316
hgdprs104886316
ensemblrs104886316
gopubmedrs104886316
geneviewrs104886316
scholarrs104886316
googlers104886316
pharmgkbrs104886316
gwascentralrs104886316
openSNPrs104886316
23andMers104886316
23andMe allrs104886316
SNP Nexus

SNPshotrs104886316
SNPdbers104886316
MSV3drs104886316
GWAS Ctlgrs104886316
Max Magnitude0
ClinVar
Risk rs104886316(T;T)
Alt rs104886316(T;T)
Reference rs104886316(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829874dupT
CLNSRC ClinVar
CLNACC RCV000021240.1,


[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.