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rs104886123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886123(-;-)
Make rs104886123(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597047
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886123
ebirs104886123
HLIrs104886123
Exacrs104886123
Varsomers104886123
Maprs104886123
PheGenIrs104886123
hapmaprs104886123
1000 genomesrs104886123
hgdprs104886123
ensemblrs104886123
gopubmedrs104886123
geneviewrs104886123
scholarrs104886123
googlers104886123
pharmgkbrs104886123
gwascentralrs104886123
openSNPrs104886123
23andMers104886123
23andMe allrs104886123
SNP Nexus

SNPshotrs104886123
SNPdbers104886123
MSV3drs104886123
GWAS Ctlgrs104886123
Max Magnitude0
ClinVar
Risk rs104886123(;)
Alt rs104886123(;)
Reference rs104886123(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840277delA
CLNSRC ClinVar
CLNACC RCV000021302.1,


[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