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rs104886367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886367(G;T)
Make rs104886367(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108568628
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886367
ebirs104886367
HLIrs104886367
Exacrs104886367
Varsomers104886367
Maprs104886367
PheGenIrs104886367
hapmaprs104886367
1000 genomesrs104886367
hgdprs104886367
ensemblrs104886367
gopubmedrs104886367
geneviewrs104886367
scholarrs104886367
googlers104886367
pharmgkbrs104886367
gwascentralrs104886367
openSNPrs104886367
23andMers104886367
23andMe allrs104886367
SNP Nexus

SNPshotrs104886367
SNPdbers104886367
MSV3drs104886367
GWAS Ctlgrs104886367
Max Magnitude0
ClinVar
Risk rs104886367(T;T)
Alt rs104886367(T;T)
Reference rs104886367(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107811858G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021134.1,


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

OMIM301050
Desc
Variant
Relatedalso