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rs104886248

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886248(A;A)
Make rs104886248(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668355
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886248
ebirs104886248
HLIrs104886248
Exacrs104886248
Varsomers104886248
Maprs104886248
PheGenIrs104886248
hapmaprs104886248
1000 genomesrs104886248
hgdprs104886248
ensemblrs104886248
gopubmedrs104886248
geneviewrs104886248
scholarrs104886248
googlers104886248
pharmgkbrs104886248
gwascentralrs104886248
openSNPrs104886248
23andMers104886248
23andMe allrs104886248
SNP Nexus

SNPshotrs104886248
SNPdbers104886248
MSV3drs104886248
GWAS Ctlgrs104886248
Max Magnitude0
ClinVar
Risk rs104886248(A;A)
Alt rs104886248(A;A)
Reference rs104886248(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911585G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021542.1,


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

OMIM301050
Desc
Variant
Relatedalso