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rs104886104

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886104(-;-)
Make rs104886104(-;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591146
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886104
ebirs104886104
HLIrs104886104
Exacrs104886104
Varsomers104886104
Maprs104886104
PheGenIrs104886104
hapmaprs104886104
1000 genomesrs104886104
hgdprs104886104
ensemblrs104886104
gopubmedrs104886104
geneviewrs104886104
scholarrs104886104
googlers104886104
pharmgkbrs104886104
gwascentralrs104886104
openSNPrs104886104
23andMers104886104
23andMe allrs104886104
SNP Nexus

SNPshotrs104886104
SNPdbers104886104
MSV3drs104886104
GWAS Ctlgrs104886104
Max Magnitude0
ClinVar
Risk rs104886104(;)
Alt rs104886104(;)
Reference rs104886104(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834376delT
CLNSRC ClinVar
CLNACC RCV000021268.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso