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rs104886108

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886108(C;C)
Make rs104886108(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586703
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886108
ebirs104886108
HLIrs104886108
Exacrs104886108
Varsomers104886108
Maprs104886108
PheGenIrs104886108
hapmaprs104886108
1000 genomesrs104886108
hgdprs104886108
ensemblrs104886108
gopubmedrs104886108
geneviewrs104886108
scholarrs104886108
googlers104886108
pharmgkbrs104886108
gwascentralrs104886108
openSNPrs104886108
23andMers104886108
23andMe allrs104886108
SNP Nexus

SNPshotrs104886108
SNPdbers104886108
MSV3drs104886108
GWAS Ctlgrs104886108
Max Magnitude0
ClinVar
Risk rs104886108(C;C)
Alt rs104886108(C;C)
Reference rs104886108(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829933G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021247.1,


[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