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rs104886362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886362(-;-)
Make rs104886362(-;C)
Make rs104886362(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621833
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886362
ebirs104886362
HLIrs104886362
Exacrs104886362
Varsomers104886362
Maprs104886362
PheGenIrs104886362
hapmaprs104886362
1000 genomesrs104886362
hgdprs104886362
ensemblrs104886362
gopubmedrs104886362
geneviewrs104886362
scholarrs104886362
googlers104886362
pharmgkbrs104886362
gwascentralrs104886362
openSNPrs104886362
23andMers104886362
23andMe allrs104886362
SNP Nexus

SNPshotrs104886362
SNPdbers104886362
MSV3drs104886362
GWAS Ctlgrs104886362
Max Magnitude0
ClinVar
Risk rs104886362(C;C)
Alt rs104886362(C;C)
Reference rs104886362(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865063dupC
CLNSRC ClinVar
CLNACC RCV000021435.1,


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