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rs104886062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886062(G;T)
Make rs104886062(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108575965
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886062
ebirs104886062
HLIrs104886062
Exacrs104886062
Varsomers104886062
Maprs104886062
PheGenIrs104886062
hapmaprs104886062
1000 genomesrs104886062
hgdprs104886062
ensemblrs104886062
gopubmedrs104886062
geneviewrs104886062
scholarrs104886062
googlers104886062
pharmgkbrs104886062
gwascentralrs104886062
openSNPrs104886062
23andMers104886062
23andMe allrs104886062
SNP Nexus

SNPshotrs104886062
SNPdbers104886062
MSV3drs104886062
GWAS Ctlgrs104886062
Max Magnitude0
ClinVar
Risk rs104886062(C,T;C,T)
Alt rs104886062(C,T;C,T)
Reference rs104886062(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107819195G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021172.1,


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

OMIM301050
Desc
Variant
Relatedalso