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rs104886065

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886065(-;-)
Make rs104886065(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108577976
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886065
ebirs104886065
HLIrs104886065
Exacrs104886065
Varsomers104886065
Maprs104886065
PheGenIrs104886065
hapmaprs104886065
1000 genomesrs104886065
hgdprs104886065
ensemblrs104886065
gopubmedrs104886065
geneviewrs104886065
scholarrs104886065
googlers104886065
pharmgkbrs104886065
gwascentralrs104886065
openSNPrs104886065
23andMers104886065
23andMe allrs104886065
SNP Nexus

SNPshotrs104886065
SNPdbers104886065
MSV3drs104886065
GWAS Ctlgrs104886065
Max Magnitude0
ClinVar
Risk rs104886065(;)
Alt rs104886065(;)
Reference rs104886065(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821206delC
CLNSRC ClinVar
CLNACC RCV000021181.1,


[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