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rs104886390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACCTCAAGG;ACCTCAAGG) 0 common in clinvar
(AGGACCTCA;AGGACCTCA) 0 common in clinvar
Make rs104886390(-;-)
Make rs104886390(-;ACCTCAAGG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108568788
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886390
ebirs104886390
HLIrs104886390
Exacrs104886390
Varsomers104886390
Maprs104886390
PheGenIrs104886390
hapmaprs104886390
1000 genomesrs104886390
hgdprs104886390
ensemblrs104886390
gopubmedrs104886390
geneviewrs104886390
scholarrs104886390
googlers104886390
pharmgkbrs104886390
gwascentralrs104886390
openSNPrs104886390
23andMers104886390
23andMe allrs104886390
SNP Nexus

SNPshotrs104886390
SNPdbers104886390
MSV3drs104886390
GWAS Ctlgrs104886390
Max Magnitude0
ClinVar
Risk rs104886390(;)
Alt rs104886390(;)
Reference rs104886390(AGGACCTCA;AGGACCTCA)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107812018_107812026delACCTCAAGG
CLNSRC ClinVar
CLNACC RCV000021139.1,


[PMID 18846626] Gene symbol: COL4A5. Disease: Alport Syndrome.