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rs104886259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886259(-;-)
Make rs104886259(-;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108677629
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886259
ebirs104886259
HLIrs104886259
Exacrs104886259
Varsomers104886259
Maprs104886259
PheGenIrs104886259
hapmaprs104886259
1000 genomesrs104886259
hgdprs104886259
ensemblrs104886259
gopubmedrs104886259
geneviewrs104886259
scholarrs104886259
googlers104886259
pharmgkbrs104886259
gwascentralrs104886259
openSNPrs104886259
23andMers104886259
23andMe allrs104886259
SNP Nexus

SNPshotrs104886259
SNPdbers104886259
MSV3drs104886259
GWAS Ctlgrs104886259
Max Magnitude0
ClinVar
Risk rs104886259(;)
Alt rs104886259(;)
Reference rs104886259(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107920859delT
CLNSRC ClinVar
CLNACC RCV000021567.1,


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

OMIM301050
Desc
Variant
Relatedalso