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

rs104886047

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886047(G;G)
Make rs104886047(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108539754
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886047
ebirs104886047
HLIrs104886047
Exacrs104886047
Varsomers104886047
Maprs104886047
PheGenIrs104886047
hapmaprs104886047
1000 genomesrs104886047
hgdprs104886047
ensemblrs104886047
gopubmedrs104886047
geneviewrs104886047
scholarrs104886047
googlers104886047
pharmgkbrs104886047
gwascentralrs104886047
openSNPrs104886047
23andMers104886047
23andMe allrs104886047
SNP Nexus

SNPshotrs104886047
SNPdbers104886047
MSV3drs104886047
GWAS Ctlgrs104886047
Max Magnitude0
ClinVar
Risk rs104886047(C,G;C,G)
Alt rs104886047(C,G;C,G)
Reference rs104886047(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107782984T>G
CLNSRC ARUP COL4A5
CLNACC RCV000021117.1,


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

OMIM301050
Desc
Variant
Relatedalso