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rs104886055

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886055(C;C)
Make rs104886055(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108573628
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886055
ebirs104886055
HLIrs104886055
Exacrs104886055
Varsomers104886055
Maprs104886055
PheGenIrs104886055
hapmaprs104886055
1000 genomesrs104886055
hgdprs104886055
ensemblrs104886055
gopubmedrs104886055
geneviewrs104886055
scholarrs104886055
googlers104886055
pharmgkbrs104886055
gwascentralrs104886055
openSNPrs104886055
23andMers104886055
23andMe allrs104886055
SNP Nexus

SNPshotrs104886055
SNPdbers104886055
MSV3drs104886055
GWAS Ctlgrs104886055
Max Magnitude0
OMIM301050
Desc
Variant
Relatedalso
ClinVar
Risk rs104886055(C;C)
Alt rs104886055(C;C)
Reference rs104886055(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107816858G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021156.1,


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