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rs104886133

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886133(G;T)
Make rs104886133(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598730
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886133
ebirs104886133
HLIrs104886133
Exacrs104886133
Varsomers104886133
Maprs104886133
PheGenIrs104886133
hapmaprs104886133
1000 genomesrs104886133
hgdprs104886133
ensemblrs104886133
gopubmedrs104886133
geneviewrs104886133
scholarrs104886133
googlers104886133
pharmgkbrs104886133
gwascentralrs104886133
openSNPrs104886133
23andMers104886133
23andMe allrs104886133
SNP Nexus

SNPshotrs104886133
SNPdbers104886133
MSV3drs104886133
GWAS Ctlgrs104886133
Max Magnitude0
ClinVar
Risk rs104886133(T;T)
Alt rs104886133(T;T)
Reference rs104886133(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107841960G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021329.1,


[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

OMIM301050
Desc
Variant
Relatedalso