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rs104886249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886249(-;-)
Make rs104886249(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668361
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886249
ebirs104886249
HLIrs104886249
Exacrs104886249
Varsomers104886249
Maprs104886249
PheGenIrs104886249
hapmaprs104886249
1000 genomesrs104886249
hgdprs104886249
ensemblrs104886249
gopubmedrs104886249
geneviewrs104886249
scholarrs104886249
googlers104886249
pharmgkbrs104886249
gwascentralrs104886249
openSNPrs104886249
23andMers104886249
23andMe allrs104886249
SNP Nexus

SNPshotrs104886249
SNPdbers104886249
MSV3drs104886249
GWAS Ctlgrs104886249
Max Magnitude0
ClinVar
Risk rs104886249(;)
Alt rs104886249(;)
Reference rs104886249(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911591delC
CLNSRC ClinVar
CLNACC RCV000021543.1,


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

OMIM301050
Desc
Variant
Relatedalso