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rs747821285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs747821285(A;A)
Make rs747821285(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2496476
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs747821285
dbSNP (classic)rs747821285
ClinGenrs747821285
ebirs747821285
HLIrs747821285
Exacrs747821285
Gnomadrs747821285
Varsomers747821285
LitVarrs747821285
Maprs747821285
PheGenIrs747821285
Biobankrs747821285
1000 genomesrs747821285
hgdprs747821285
ensemblrs747821285
geneviewrs747821285
scholarrs747821285
googlers747821285
pharmgkbrs747821285
gwascentralrs747821285
openSNPrs747821285
23andMers747821285
SNPshotrs747821285
SNPdbers747821285
MSV3drs747821285
GWAS Ctlgrs747821285
Max Magnitude0
ClinVar
Risk rs747821285(A;A)
Alt rs747821285(A;A)
Reference Rs747821285(G;G)
Significance Pathogenic
Disease Digitorenocerebral syndrome not provided
Variation info
Gene TBC1D24
CLNDBN Digitorenocerebral syndrome not provided
Reversed 0
HGVS NC_000016.9:g.2546477G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000192068.1, RCV000420758.1,