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rs104886164

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886164(C;T)
Make rs104886164(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108603032
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886164
ebirs104886164
HLIrs104886164
Exacrs104886164
Varsomers104886164
Maprs104886164
PheGenIrs104886164
hapmaprs104886164
1000 genomesrs104886164
hgdprs104886164
ensemblrs104886164
gopubmedrs104886164
geneviewrs104886164
scholarrs104886164
googlers104886164
pharmgkbrs104886164
gwascentralrs104886164
openSNPrs104886164
23andMers104886164
23andMe allrs104886164
SNP Nexus

SNPshotrs104886164
SNPdbers104886164
MSV3drs104886164
GWAS Ctlgrs104886164
GMAF0.005441
Max Magnitude0
ClinVar
Risk rs104886164(G,T;G,T)
Alt rs104886164(G,T;G,T)
Reference rs104886164(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107846262C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021375.1,


[PMID 10684360] Mutational analysis of COL4A5 gene in Korean Alport syndrome.