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rs104886061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886061(A;A)
Make rs104886061(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108575947
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886061
ebirs104886061
HLIrs104886061
Exacrs104886061
Varsomers104886061
Maprs104886061
PheGenIrs104886061
hapmaprs104886061
1000 genomesrs104886061
hgdprs104886061
ensemblrs104886061
gopubmedrs104886061
geneviewrs104886061
scholarrs104886061
googlers104886061
pharmgkbrs104886061
gwascentralrs104886061
openSNPrs104886061
23andMers104886061
23andMe allrs104886061
SNP Nexus

SNPshotrs104886061
SNPdbers104886061
MSV3drs104886061
GWAS Ctlgrs104886061
Max Magnitude0
ClinVar
Risk rs104886061(A;A)
Alt rs104886061(A;A)
Reference rs104886061(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107819177G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021170.1,


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

OMIM301050
Desc
Variant
Relatedalso