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rs104886356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGACCACCA;GGACCACCA) 0 common in clinvar
Make rs104886356(-;-)
Make rs104886356(-;GGACCACCA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108614979
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886356
ebirs104886356
HLIrs104886356
Exacrs104886356
Varsomers104886356
Maprs104886356
PheGenIrs104886356
hapmaprs104886356
1000 genomesrs104886356
hgdprs104886356
ensemblrs104886356
gopubmedrs104886356
geneviewrs104886356
scholarrs104886356
googlers104886356
pharmgkbrs104886356
gwascentralrs104886356
openSNPrs104886356
23andMers104886356
23andMe allrs104886356
SNP Nexus

SNPshotrs104886356
SNPdbers104886356
MSV3drs104886356
GWAS Ctlgrs104886356
Max Magnitude0
ClinVar
Risk rs104886356(;)
Alt rs104886356(;)
Reference rs104886356(GGACCACCA;GGACCACCA)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858220_107858228delACCACCAGG
CLNSRC ClinVar
CLNACC RCV000021406.2,


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