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

rs104886241

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886241(C;T)
Make rs104886241(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108666579
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886241
ebirs104886241
HLIrs104886241
Exacrs104886241
Varsomers104886241
Maprs104886241
PheGenIrs104886241
hapmaprs104886241
1000 genomesrs104886241
hgdprs104886241
ensemblrs104886241
gopubmedrs104886241
geneviewrs104886241
scholarrs104886241
googlers104886241
pharmgkbrs104886241
gwascentralrs104886241
openSNPrs104886241
23andMers104886241
23andMe allrs104886241
SNP Nexus

SNPshotrs104886241
SNPdbers104886241
MSV3drs104886241
GWAS Ctlgrs104886241
Max Magnitude0
ClinVar
Risk rs104886241(T;T)
Alt rs104886241(T;T)
Reference Rs104886241(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909809C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021522.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso