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rs104886326

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886326(-;-)
Make rs104886326(-;GGGG)
Make rs104886326(GGGG;GGGG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591109
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886326
ebirs104886326
HLIrs104886326
Exacrs104886326
Varsomers104886326
Maprs104886326
PheGenIrs104886326
hapmaprs104886326
1000 genomesrs104886326
hgdprs104886326
ensemblrs104886326
gopubmedrs104886326
geneviewrs104886326
scholarrs104886326
googlers104886326
pharmgkbrs104886326
gwascentralrs104886326
openSNPrs104886326
23andMers104886326
23andMe allrs104886326
SNP Nexus

SNPshotrs104886326
SNPdbers104886326
MSV3drs104886326
GWAS Ctlgrs104886326
Max Magnitude0
ClinVar
Risk rs104886326(GGGG;GGGG)
Alt rs104886326(GGGG;GGGG)
Reference rs104886326(;)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834336_107834339dupGGGG
CLNSRC
CLNACC


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