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rs104886273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886273(G;T)
Make rs104886273(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108686111
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886273
ebirs104886273
HLIrs104886273
Exacrs104886273
Varsomers104886273
Maprs104886273
PheGenIrs104886273
hapmaprs104886273
1000 genomesrs104886273
hgdprs104886273
ensemblrs104886273
gopubmedrs104886273
geneviewrs104886273
scholarrs104886273
googlers104886273
pharmgkbrs104886273
gwascentralrs104886273
openSNPrs104886273
23andMers104886273
23andMe allrs104886273
SNP Nexus

SNPshotrs104886273
SNPdbers104886273
MSV3drs104886273
GWAS Ctlgrs104886273
Max Magnitude0
ClinVar
Risk rs104886273(C,T;C,T)
Alt rs104886273(C,T;C,T)
Reference rs104886273(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107929341G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021602.1,


OMIM301050
Desc
Variant
Relatedalso

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


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