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rs104886291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886291(G;T)
Make rs104886291(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694884
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886291
ebirs104886291
HLIrs104886291
Exacrs104886291
Varsomers104886291
Maprs104886291
PheGenIrs104886291
hapmaprs104886291
1000 genomesrs104886291
hgdprs104886291
ensemblrs104886291
gopubmedrs104886291
geneviewrs104886291
scholarrs104886291
googlers104886291
pharmgkbrs104886291
gwascentralrs104886291
openSNPrs104886291
23andMers104886291
23andMe allrs104886291
SNP Nexus

SNPshotrs104886291
SNPdbers104886291
MSV3drs104886291
GWAS Ctlgrs104886291
Max Magnitude0
ClinVar
Risk rs104886291(T;T)
Alt rs104886291(T;T)
Reference rs104886291(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938114G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021647.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 16941480] A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.