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rs587777157

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777157(A;A)
Make rs587777157(A;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position447946
GeneTBC1D20
is asnp
is mentioned by
dbSNPrs587777157
dbSNP (classic)rs587777157
ClinGenrs587777157
ebirs587777157
HLIrs587777157
Exacrs587777157
Gnomadrs587777157
Varsomers587777157
LitVarrs587777157
Maprs587777157
PheGenIrs587777157
Biobankrs587777157
1000 genomesrs587777157
hgdprs587777157
ensemblrs587777157
geneviewrs587777157
scholarrs587777157
googlers587777157
pharmgkbrs587777157
gwascentralrs587777157
openSNPrs587777157
23andMers587777157
SNPshotrs587777157
SNPdbers587777157
MSV3drs587777157
GWAS Ctlgrs587777157
Max Magnitude0
ClinVar
Risk rs587777157(A;A)
Alt rs587777157(A;A)
Reference Rs587777157(G;G)
Significance Pathogenic
Disease Warburg micro syndrome 4
Variation info
Gene TBC1D20
CLNDBN Warburg micro syndrome 4
Reversed 0
HGVS NC_000020.10:g.428590G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087138.3,