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rs104886266

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886266(A;A)
Make rs104886266(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108680751
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886266
ebirs104886266
HLIrs104886266
Exacrs104886266
Varsomers104886266
Maprs104886266
PheGenIrs104886266
hapmaprs104886266
1000 genomesrs104886266
hgdprs104886266
ensemblrs104886266
gopubmedrs104886266
geneviewrs104886266
scholarrs104886266
googlers104886266
pharmgkbrs104886266
gwascentralrs104886266
openSNPrs104886266
23andMers104886266
23andMe allrs104886266
SNP Nexus

SNPshotrs104886266
SNPdbers104886266
MSV3drs104886266
GWAS Ctlgrs104886266
Max Magnitude0
ClinVar
Risk rs104886266(A;A)
Alt rs104886266(A;A)
Reference rs104886266(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107923981G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021575.1,


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

OMIM301050
Desc
Variant
Relatedalso