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rs104886268

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886268(-;-)
Make rs104886268(-;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108681761
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886268
ebirs104886268
HLIrs104886268
Exacrs104886268
Varsomers104886268
Maprs104886268
PheGenIrs104886268
hapmaprs104886268
1000 genomesrs104886268
hgdprs104886268
ensemblrs104886268
gopubmedrs104886268
geneviewrs104886268
scholarrs104886268
googlers104886268
pharmgkbrs104886268
gwascentralrs104886268
openSNPrs104886268
23andMers104886268
23andMe allrs104886268
SNP Nexus

SNPshotrs104886268
SNPdbers104886268
MSV3drs104886268
GWAS Ctlgrs104886268
Max Magnitude0
ClinVar
Risk rs104886268(;)
Alt rs104886268(;)
Reference rs104886268(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107924991delT
CLNSRC ClinVar
CLNACC RCV000021583.1,


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

OMIM301050
Desc
Variant
Relatedalso