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rs104886121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886121(G;T)
Make rs104886121(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597042
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886121
ebirs104886121
HLIrs104886121
Exacrs104886121
Varsomers104886121
Maprs104886121
PheGenIrs104886121
hapmaprs104886121
1000 genomesrs104886121
hgdprs104886121
ensemblrs104886121
gopubmedrs104886121
geneviewrs104886121
scholarrs104886121
googlers104886121
pharmgkbrs104886121
gwascentralrs104886121
openSNPrs104886121
23andMers104886121
23andMe allrs104886121
SNP Nexus

SNPshotrs104886121
SNPdbers104886121
MSV3drs104886121
GWAS Ctlgrs104886121
Max Magnitude0
OMIM303630
Desc
Variant0010
Relatedalso
OMIM301050
Desc
Variant
Relatedalso
ClinVar
Risk rs104886121(A,T;A,T)
Alt rs104886121(A,T;A,T)
Reference rs104886121(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840272G>T
CLNSRC ARUP COL4A5 OMIM Allelic Variant
CLNACC RCV000011208.5,


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