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rs104886403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs104886403(-;-)
Make rs104886403(-;AG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108681792
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886403
ebirs104886403
HLIrs104886403
Exacrs104886403
Varsomers104886403
Maprs104886403
PheGenIrs104886403
hapmaprs104886403
1000 genomesrs104886403
hgdprs104886403
ensemblrs104886403
gopubmedrs104886403
geneviewrs104886403
scholarrs104886403
googlers104886403
pharmgkbrs104886403
gwascentralrs104886403
openSNPrs104886403
23andMers104886403
23andMe allrs104886403
SNP Nexus

SNPshotrs104886403
SNPdbers104886403
MSV3drs104886403
GWAS Ctlgrs104886403
Max Magnitude0
ClinVar
Risk rs104886403(;)
Alt rs104886403(;)
Reference rs104886403(AG;AG)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107925022_107925023delAG
CLNSRC ClinVar
CLNACC RCV000021584.1,


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

OMIM301050
Desc
Variant
Relatedalso