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rs104886303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886303(G;G)
Make rs104886303(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108695409
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886303
ebirs104886303
HLIrs104886303
Exacrs104886303
Varsomers104886303
Maprs104886303
PheGenIrs104886303
hapmaprs104886303
1000 genomesrs104886303
hgdprs104886303
ensemblrs104886303
gopubmedrs104886303
geneviewrs104886303
scholarrs104886303
googlers104886303
pharmgkbrs104886303
gwascentralrs104886303
openSNPrs104886303
23andMers104886303
23andMe allrs104886303
SNP Nexus

SNPshotrs104886303
SNPdbers104886303
MSV3drs104886303
GWAS Ctlgrs104886303
Max Magnitude0
OMIM303630
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104886303(G;G)
Alt rs104886303(G;G)
Reference rs104886303(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938639T>G
CLNSRC ARUP COL4A5 OMIM Allelic Variant
CLNACC RCV000011212.5,


[PMID 8651292OA-icon.png] A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.