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rs398122965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122965(C;T)
Make rs398122965(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2496872
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs398122965
dbSNP (classic)rs398122965
ClinGenrs398122965
ebirs398122965
HLIrs398122965
Exacrs398122965
Gnomadrs398122965
Varsomers398122965
LitVarrs398122965
Maprs398122965
PheGenIrs398122965
Biobankrs398122965
1000 genomesrs398122965
hgdprs398122965
ensemblrs398122965
geneviewrs398122965
scholarrs398122965
googlers398122965
pharmgkbrs398122965
gwascentralrs398122965
openSNPrs398122965
23andMers398122965
SNPshotrs398122965
SNPdbers398122965
MSV3drs398122965
GWAS Ctlgrs398122965
Max Magnitude0
ClinVar
Risk rs398122965(T;T)
Alt rs398122965(T;T)
Reference Rs398122965(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.2546873C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000076913.4, RCV000189686.1,