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

rs104886267

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886267(G;T)
Make rs104886267(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108680956
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886267
ebirs104886267
HLIrs104886267
Exacrs104886267
Varsomers104886267
Maprs104886267
PheGenIrs104886267
hapmaprs104886267
1000 genomesrs104886267
hgdprs104886267
ensemblrs104886267
gopubmedrs104886267
geneviewrs104886267
scholarrs104886267
googlers104886267
pharmgkbrs104886267
gwascentralrs104886267
openSNPrs104886267
23andMers104886267
23andMe allrs104886267
SNP Nexus

SNPshotrs104886267
SNPdbers104886267
MSV3drs104886267
GWAS Ctlgrs104886267
Max Magnitude0
ClinVar
Risk rs104886267(A,T;A,T)
Alt rs104886267(A,T;A,T)
Reference rs104886267(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107924186G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021580.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.


[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.