Have questions? Visit https://www.reddit.com/r/SNPedia

rs104886111

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886111(A;A)
Make rs104886111(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591168
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886111
ebirs104886111
HLIrs104886111
Exacrs104886111
Varsomers104886111
Maprs104886111
PheGenIrs104886111
hapmaprs104886111
1000 genomesrs104886111
hgdprs104886111
ensemblrs104886111
gopubmedrs104886111
geneviewrs104886111
scholarrs104886111
googlers104886111
pharmgkbrs104886111
gwascentralrs104886111
openSNPrs104886111
23andMers104886111
23andMe allrs104886111
SNP Nexus

SNPshotrs104886111
SNPdbers104886111
MSV3drs104886111
GWAS Ctlgrs104886111
Max Magnitude0
ClinVar
Risk rs104886111(A;A)
Alt rs104886111(A;A)
Reference rs104886111(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834398G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021272.1,


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

OMIM301050
Desc
Variant
Relatedalso