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rs104886288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886288(C;C)
Make rs104886288(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694817
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886288
ebirs104886288
HLIrs104886288
Exacrs104886288
Varsomers104886288
Maprs104886288
PheGenIrs104886288
hapmaprs104886288
1000 genomesrs104886288
hgdprs104886288
ensemblrs104886288
gopubmedrs104886288
geneviewrs104886288
scholarrs104886288
googlers104886288
pharmgkbrs104886288
gwascentralrs104886288
openSNPrs104886288
23andMers104886288
23andMe allrs104886288
SNP Nexus

SNPshotrs104886288
SNPdbers104886288
MSV3drs104886288
GWAS Ctlgrs104886288
Max Magnitude0
ClinVar
Risk rs104886288(C;C)
Alt rs104886288(C;C)
Reference rs104886288(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938047T>C
CLNSRC ARUP COL4A5
CLNACC RCV000021641.1,


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

OMIM301050
Desc
Variant
Relatedalso