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rs104886283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886283(C;T)
Make rs104886283(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687647
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886283
ebirs104886283
HLIrs104886283
Exacrs104886283
Varsomers104886283
Maprs104886283
PheGenIrs104886283
hapmaprs104886283
1000 genomesrs104886283
hgdprs104886283
ensemblrs104886283
gopubmedrs104886283
geneviewrs104886283
scholarrs104886283
googlers104886283
pharmgkbrs104886283
gwascentralrs104886283
openSNPrs104886283
23andMers104886283
23andMe allrs104886283
SNP Nexus

SNPshotrs104886283
SNPdbers104886283
MSV3drs104886283
GWAS Ctlgrs104886283
Max Magnitude0
ClinVar
Risk rs104886283(T;T)
Alt rs104886283(T;T)
Reference rs104886283(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930877C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021619.1,


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

OMIM301050
Desc
Variant
Relatedalso