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rs104886392

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886392(-;-)
Make rs104886392(-;CC)
Make rs104886392(CC;CC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668424
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886392
ebirs104886392
HLIrs104886392
Exacrs104886392
Varsomers104886392
Maprs104886392
PheGenIrs104886392
hapmaprs104886392
1000 genomesrs104886392
hgdprs104886392
ensemblrs104886392
gopubmedrs104886392
geneviewrs104886392
scholarrs104886392
googlers104886392
pharmgkbrs104886392
gwascentralrs104886392
openSNPrs104886392
23andMers104886392
23andMe allrs104886392
SNP Nexus

SNPshotrs104886392
SNPdbers104886392
MSV3drs104886392
GWAS Ctlgrs104886392
Max Magnitude0
ClinVar
Risk rs104886392(CC;CC)
Alt rs104886392(CC;CC)
Reference rs104886392(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911653_107911654dupCC
CLNSRC ClinVar
CLNACC RCV000021554.1,


OMIM301050
Desc
Variant
Relatedalso

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