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rs587777160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777160(C;T)
Make rs587777160(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position440344
GeneTBC1D20
is asnp
is mentioned by
dbSNPrs587777160
ebirs587777160
HLIrs587777160
Exacrs587777160
Varsomers587777160
Maprs587777160
PheGenIrs587777160
hapmaprs587777160
1000 genomesrs587777160
hgdprs587777160
ensemblrs587777160
gopubmedrs587777160
geneviewrs587777160
scholarrs587777160
googlers587777160
pharmgkbrs587777160
gwascentralrs587777160
openSNPrs587777160
23andMers587777160
23andMe allrs587777160
SNP Nexus

SNPshotrs587777160
SNPdbers587777160
MSV3drs587777160
GWAS Ctlgrs587777160
Max Magnitude0
ClinVar
Risk rs587777160(C,T;C,T)
Alt rs587777160(C,T;C,T)
Reference rs587777160(G;G)
Significance Pathogenic
Disease Warburg micro syndrome 4
Variation info
Gene TBC1D20
CLNDBN Warburg micro syndrome 4
Reversed 1
HGVS NC_000020.10:g.420988C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087141.3,