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

rs104886225

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886225(A;A)
Make rs104886225(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108655403
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886225
ebirs104886225
HLIrs104886225
Exacrs104886225
Varsomers104886225
Maprs104886225
PheGenIrs104886225
hapmaprs104886225
1000 genomesrs104886225
hgdprs104886225
ensemblrs104886225
gopubmedrs104886225
geneviewrs104886225
scholarrs104886225
googlers104886225
pharmgkbrs104886225
gwascentralrs104886225
openSNPrs104886225
23andMers104886225
23andMe allrs104886225
SNP Nexus

SNPshotrs104886225
SNPdbers104886225
MSV3drs104886225
GWAS Ctlgrs104886225
Max Magnitude0
ClinVar
Risk rs104886225(A;A)
Alt rs104886225(A;A)
Reference rs104886225(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107898633G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021496.1,


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

OMIM301050
Desc
Variant
Relatedalso