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rs104886254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886254(-;-)
Make rs104886254(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668406
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886254
ebirs104886254
HLIrs104886254
Exacrs104886254
Varsomers104886254
Maprs104886254
PheGenIrs104886254
hapmaprs104886254
1000 genomesrs104886254
hgdprs104886254
ensemblrs104886254
gopubmedrs104886254
geneviewrs104886254
scholarrs104886254
googlers104886254
pharmgkbrs104886254
gwascentralrs104886254
openSNPrs104886254
23andMers104886254
23andMe allrs104886254
SNP Nexus

SNPshotrs104886254
SNPdbers104886254
MSV3drs104886254
GWAS Ctlgrs104886254
Max Magnitude0
ClinVar
Risk rs104886254(;)
Alt rs104886254(;)
Reference rs104886254(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911636delC
CLNSRC ClinVar
CLNACC RCV000021548.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.