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rs760474458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs760474458(C;C)
Make rs760474458(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2496267
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs760474458
dbSNP (classic)rs760474458
ClinGenrs760474458
ebirs760474458
HLIrs760474458
Exacrs760474458
Gnomadrs760474458
Varsomers760474458
LitVarrs760474458
Maprs760474458
PheGenIrs760474458
Biobankrs760474458
1000 genomesrs760474458
hgdprs760474458
ensemblrs760474458
geneviewrs760474458
scholarrs760474458
googlers760474458
pharmgkbrs760474458
gwascentralrs760474458
openSNPrs760474458
23andMers760474458
SNPshotrs760474458
SNPdbers760474458
MSV3drs760474458
GWAS Ctlgrs760474458
Max Magnitude0
ClinVar
Risk rs760474458(C;C) rs760474458(T;T)
Alt rs760474458(C;C) rs760474458(T;T)
Reference Rs760474458(G;G)
Significance Pathogenic
Disease Digitorenocerebral syndrome
Variation info
Gene TBC1D24
CLNDBN Digitorenocerebral syndrome
Reversed 0
HGVS NC_000016.9:g.2546268G>T
CLNSRC
CLNACC RCV000192066.1,