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rs104886053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886053(-;-)
Make rs104886053(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108571812
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886053
ebirs104886053
HLIrs104886053
Exacrs104886053
Varsomers104886053
Maprs104886053
PheGenIrs104886053
hapmaprs104886053
1000 genomesrs104886053
hgdprs104886053
ensemblrs104886053
gopubmedrs104886053
geneviewrs104886053
scholarrs104886053
googlers104886053
pharmgkbrs104886053
gwascentralrs104886053
openSNPrs104886053
23andMers104886053
23andMe allrs104886053
SNP Nexus

SNPshotrs104886053
SNPdbers104886053
MSV3drs104886053
GWAS Ctlgrs104886053
Max Magnitude0
ClinVar
Risk rs104886053(;)
Alt rs104886053(;)
Reference rs104886053(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107815042delG
CLNSRC ClinVar
CLNACC RCV000021150.1,


[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