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rs104886118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886118(A;A)
Make rs104886118(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108595566
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886118
ebirs104886118
HLIrs104886118
Exacrs104886118
Varsomers104886118
Maprs104886118
PheGenIrs104886118
hapmaprs104886118
1000 genomesrs104886118
hgdprs104886118
ensemblrs104886118
gopubmedrs104886118
geneviewrs104886118
scholarrs104886118
googlers104886118
pharmgkbrs104886118
gwascentralrs104886118
openSNPrs104886118
23andMers104886118
23andMe allrs104886118
SNP Nexus

SNPshotrs104886118
SNPdbers104886118
MSV3drs104886118
GWAS Ctlgrs104886118
Max Magnitude0
ClinVar
Risk rs104886118(A;A)
Alt rs104886118(A;A)
Reference rs104886118(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107838796G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021295.1,


OMIM301050
Desc
Variant
Relatedalso
[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.