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rs104886258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886258(-;-)
Make rs104886258(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108677523
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886258
ebirs104886258
HLIrs104886258
Exacrs104886258
Varsomers104886258
Maprs104886258
PheGenIrs104886258
hapmaprs104886258
1000 genomesrs104886258
hgdprs104886258
ensemblrs104886258
gopubmedrs104886258
geneviewrs104886258
scholarrs104886258
googlers104886258
pharmgkbrs104886258
gwascentralrs104886258
openSNPrs104886258
23andMers104886258
23andMe allrs104886258
SNP Nexus

SNPshotrs104886258
SNPdbers104886258
MSV3drs104886258
GWAS Ctlgrs104886258
Max Magnitude0
ClinVar
Risk rs104886258(;)
Alt rs104886258(;)
Reference rs104886258(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107920753delC
CLNSRC ClinVar
CLNACC RCV000021565.1,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

OMIM301050
Desc
Variant
Relatedalso