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rs104886374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCTGGAGACCCAGGGCAA;CCTGGAGACCCAGGGCAA) 0 common in clinvar
Make rs104886374(-;-)
Make rs104886374(-;CCTGGAGACCCAGGGCAA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108624277
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886374
dbSNP (old)rs104886374
ClinGenrs104886374
ebirs104886374
HLIrs104886374
Exacrs104886374
Gnomadrs104886374
Varsomers104886374
Maprs104886374
PheGenIrs104886374
Biobankrs104886374
1000 genomesrs104886374
hgdprs104886374
ensemblrs104886374
gopubmedrs104886374
geneviewrs104886374
scholarrs104886374
googlers104886374
pharmgkbrs104886374
gwascentralrs104886374
openSNPrs104886374
23andMers104886374
23andMe allrs104886374
SNP Nexus

SNPshotrs104886374
SNPdbers104886374
MSV3drs104886374
GWAS Ctlgrs104886374
Max Magnitude0
ClinVar
Risk rs104886374(-;-)
Alt rs104886374(-;-)
Reference Rs104886374(CCTGGAGACCCAGGGCAA;CCTGGAGACCCAGGGCAA)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107867507_107867524del18
CLNSRC ClinVar
CLNACC RCV000021459.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.