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

rs104886045

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886045(-;-)
Make rs104886045(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108568645
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886045
ebirs104886045
HLIrs104886045
Exacrs104886045
Varsomers104886045
Maprs104886045
PheGenIrs104886045
hapmaprs104886045
1000 genomesrs104886045
hgdprs104886045
ensemblrs104886045
gopubmedrs104886045
geneviewrs104886045
scholarrs104886045
googlers104886045
pharmgkbrs104886045
gwascentralrs104886045
openSNPrs104886045
23andMers104886045
23andMe allrs104886045
SNP Nexus

SNPshotrs104886045
SNPdbers104886045
MSV3drs104886045
GWAS Ctlgrs104886045
Max Magnitude0
ClinVar
Risk rs104886045(;)
Alt rs104886045(;)
Reference rs104886045(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107811875delC
CLNSRC ClinVar
CLNACC RCV000021137.1,


[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

OMIM301050
Desc
Variant
Relatedalso