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

rs104886232

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886232(A;A)
Make rs104886232(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108655341
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886232
ebirs104886232
HLIrs104886232
Exacrs104886232
Varsomers104886232
Maprs104886232
PheGenIrs104886232
hapmaprs104886232
1000 genomesrs104886232
hgdprs104886232
ensemblrs104886232
gopubmedrs104886232
geneviewrs104886232
scholarrs104886232
googlers104886232
pharmgkbrs104886232
gwascentralrs104886232
openSNPrs104886232
23andMers104886232
23andMe allrs104886232
SNP Nexus

SNPshotrs104886232
SNPdbers104886232
MSV3drs104886232
GWAS Ctlgrs104886232
Max Magnitude0
ClinVar
Risk rs104886232(A;A)
Alt rs104886232(A;A)
Reference rs104886232(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107898571G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021493.1,


[PMID 10862091] Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

OMIM301050
Desc
Variant
Relatedalso