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rs104886436

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs104886436(-;-)
Make rs104886436(-;TT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578066
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886436
ebirs104886436
HLIrs104886436
Exacrs104886436
Varsomers104886436
Maprs104886436
PheGenIrs104886436
hapmaprs104886436
1000 genomesrs104886436
hgdprs104886436
ensemblrs104886436
gopubmedrs104886436
geneviewrs104886436
scholarrs104886436
googlers104886436
pharmgkbrs104886436
gwascentralrs104886436
openSNPrs104886436
23andMers104886436
23andMe allrs104886436
SNP Nexus

SNPshotrs104886436
SNPdbers104886436
MSV3drs104886436
GWAS Ctlgrs104886436
Max Magnitude0
ClinVar
Risk rs104886436(;)
Alt rs104886436(;)
Reference rs104886436(TT;TT)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821296_107821297delTT
CLNSRC ClinVar
CLNACC RCV000021183.1,


[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.