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

rs104886405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886405(C;T)
Make rs104886405(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108681867
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886405
ebirs104886405
HLIrs104886405
Exacrs104886405
Varsomers104886405
Maprs104886405
PheGenIrs104886405
hapmaprs104886405
1000 genomesrs104886405
hgdprs104886405
ensemblrs104886405
gopubmedrs104886405
geneviewrs104886405
scholarrs104886405
googlers104886405
pharmgkbrs104886405
gwascentralrs104886405
openSNPrs104886405
23andMers104886405
23andMe allrs104886405
SNP Nexus

SNPshotrs104886405
SNPdbers104886405
MSV3drs104886405
GWAS Ctlgrs104886405
Max Magnitude0
ClinVar
Risk rs104886405(T;T)
Alt rs104886405(T;T)
Reference rs104886405(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107925097C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021590.1,


[PMID 10561141] Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.

OMIM301050
Desc
Variant
Relatedalso