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rs104886355

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGGGATCCCCGGAGCACC;AGGGATCCCCGGAGCACC) 0 common in clinvar
(CCAGGGATCCCCGGAGCA;CCAGGGATCCCCGGAGCA) 0 common in clinvar
Make rs104886355(-;-)
Make rs104886355(-;AGGGATCCCCGGAGCACC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620344
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886355
dbSNP (old)rs104886355
ClinGenrs104886355
ebirs104886355
HLIrs104886355
Exacrs104886355
Gnomadrs104886355
Varsomers104886355
Maprs104886355
PheGenIrs104886355
Biobankrs104886355
1000 genomesrs104886355
hgdprs104886355
ensemblrs104886355
gopubmedrs104886355
geneviewrs104886355
scholarrs104886355
googlers104886355
pharmgkbrs104886355
gwascentralrs104886355
openSNPrs104886355
23andMers104886355
23andMe allrs104886355
SNP Nexus

SNPshotrs104886355
SNPdbers104886355
MSV3drs104886355
GWAS Ctlgrs104886355
Max Magnitude0
ClinVar
Risk rs104886355(-;-)
Alt rs104886355(-;-)
Reference Rs104886355(CCAGGGATCCCCGGAGCA;CCAGGGATCCCCGGAGCA)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863574_107863591del18
CLNSRC ClinVar
CLNACC RCV000021419.1,


[PMID 12105244] Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.