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rs201257588

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201257588(C;T)
Make rs201257588(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2496206
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs201257588
dbSNP (classic)rs201257588
ClinGenrs201257588
ebirs201257588
HLIrs201257588
Exacrs201257588
Gnomadrs201257588
Varsomers201257588
LitVarrs201257588
Maprs201257588
PheGenIrs201257588
Biobankrs201257588
1000 genomesrs201257588
hgdprs201257588
ensemblrs201257588
geneviewrs201257588
scholarrs201257588
googlers201257588
pharmgkbrs201257588
gwascentralrs201257588
openSNPrs201257588
23andMers201257588
SNPshotrs201257588
SNPdbers201257588
MSV3drs201257588
GWAS Ctlgrs201257588
Max Magnitude0
ClinVar
Risk rs201257588(G;G) rs201257588(T;T)
Alt rs201257588(G;G) rs201257588(T;T)
Reference Rs201257588(C;C)
Significance Pathogenic
Disease Digitorenocerebral syndrome not provided
Variation info
Gene TBC1D24
CLNDBN Digitorenocerebral syndrome not provided
Reversed 0
HGVS NC_000016.9:g.2546207C>G; NC_000016.9:g.2546207C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000076915.5, RCV000481616.1,