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rs104886260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886260(A;T)
Make rs104886260(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108680712
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886260
ebirs104886260
HLIrs104886260
Exacrs104886260
Varsomers104886260
Maprs104886260
PheGenIrs104886260
hapmaprs104886260
1000 genomesrs104886260
hgdprs104886260
ensemblrs104886260
gopubmedrs104886260
geneviewrs104886260
scholarrs104886260
googlers104886260
pharmgkbrs104886260
gwascentralrs104886260
openSNPrs104886260
23andMers104886260
23andMe allrs104886260
SNP Nexus

SNPshotrs104886260
SNPdbers104886260
MSV3drs104886260
GWAS Ctlgrs104886260
Max Magnitude0
ClinVar
Risk rs104886260(T;T)
Alt rs104886260(T;T)
Reference rs104886260(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107923942A>T
CLNSRC ARUP COL4A5
CLNACC RCV000021573.1,


[PMID 18350645] Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso