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

rs104886043

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886043(A;A)
Make rs104886043(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108559083
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886043
ebirs104886043
HLIrs104886043
Exacrs104886043
Varsomers104886043
Maprs104886043
PheGenIrs104886043
hapmaprs104886043
1000 genomesrs104886043
hgdprs104886043
ensemblrs104886043
gopubmedrs104886043
geneviewrs104886043
scholarrs104886043
googlers104886043
pharmgkbrs104886043
gwascentralrs104886043
openSNPrs104886043
23andMers104886043
23andMe allrs104886043
SNP Nexus

SNPshotrs104886043
SNPdbers104886043
MSV3drs104886043
GWAS Ctlgrs104886043
Max Magnitude0
OMIM303630
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104886043(A;A)
Alt rs104886043(A;A)
Reference rs104886043(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107802313G>A
CLNSRC ARUP COL4A5 OMIM Allelic Variant
CLNACC RCV000011211.2,


[PMID 8825605] A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.