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rs104886430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886430(-;-)
Make rs104886430(-;T)
Make rs104886430(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108573657
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886430
ebirs104886430
HLIrs104886430
Exacrs104886430
Varsomers104886430
Maprs104886430
PheGenIrs104886430
hapmaprs104886430
1000 genomesrs104886430
hgdprs104886430
ensemblrs104886430
gopubmedrs104886430
geneviewrs104886430
scholarrs104886430
googlers104886430
pharmgkbrs104886430
gwascentralrs104886430
openSNPrs104886430
23andMers104886430
23andMe allrs104886430
SNP Nexus

SNPshotrs104886430
SNPdbers104886430
MSV3drs104886430
GWAS Ctlgrs104886430
Max Magnitude0
ClinVar
Risk rs104886430(T;T)
Alt rs104886430(T;T)
Reference rs104886430(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107816887_107816888insT
CLNSRC ClinVar
CLNACC RCV000021163.1,


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