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rs104886229

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886229(A;A)
Make rs104886229(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108665561
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886229
ebirs104886229
HLIrs104886229
Exacrs104886229
Varsomers104886229
Maprs104886229
PheGenIrs104886229
hapmaprs104886229
1000 genomesrs104886229
hgdprs104886229
ensemblrs104886229
gopubmedrs104886229
geneviewrs104886229
scholarrs104886229
googlers104886229
pharmgkbrs104886229
gwascentralrs104886229
openSNPrs104886229
23andMers104886229
23andMe allrs104886229
SNP Nexus

SNPshotrs104886229
SNPdbers104886229
MSV3drs104886229
GWAS Ctlgrs104886229
Max Magnitude0
OMIM303630
Desc
Variant0006
Relatedalso
OMIM301050
Desc
Variant
Relatedalso
ClinVar
Risk rs104886229(A;A)
Alt rs104886229(A;A)
Reference rs104886229(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107908791G>A
CLNSRC ARUP COL4A5 OMIM Allelic Variant
CLNACC RCV000011204.4,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.