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rs104886343

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886343(A;C)
Make rs104886343(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601992
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886343
ebirs104886343
HLIrs104886343
Exacrs104886343
Varsomers104886343
Maprs104886343
PheGenIrs104886343
hapmaprs104886343
1000 genomesrs104886343
hgdprs104886343
ensemblrs104886343
gopubmedrs104886343
geneviewrs104886343
scholarrs104886343
googlers104886343
pharmgkbrs104886343
gwascentralrs104886343
openSNPrs104886343
23andMers104886343
23andMe allrs104886343
SNP Nexus

SNPshotrs104886343
SNPdbers104886343
MSV3drs104886343
GWAS Ctlgrs104886343
Max Magnitude0
ClinVar
Risk rs104886343(C;C)
Alt rs104886343(C;C)
Reference rs104886343(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107845222A>C
CLNSRC ARUP COL4A5
CLNACC RCV000021367.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso