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rs797044549

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044549(-;A)
Make rs797044549(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2500425
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs797044549
dbSNP (classic)rs797044549
ClinGenrs797044549
ebirs797044549
HLIrs797044549
Exacrs797044549
Gnomadrs797044549
Varsomers797044549
LitVarrs797044549
Maprs797044549
PheGenIrs797044549
Biobankrs797044549
1000 genomesrs797044549
hgdprs797044549
ensemblrs797044549
geneviewrs797044549
scholarrs797044549
googlers797044549
pharmgkbrs797044549
gwascentralrs797044549
openSNPrs797044549
23andMers797044549
SNPshotrs797044549
SNPdbers797044549
MSV3drs797044549
GWAS Ctlgrs797044549
Max Magnitude0
ClinVar
Risk rs797044549(A;A)
Alt rs797044549(A;A)
Reference Rs797044549(-;-)
Significance Pathogenic
Disease Digitorenocerebral syndrome
Variation info
Gene TBC1D24
CLNDBN Digitorenocerebral syndrome
Reversed 0
HGVS NC_000016.9:g.2550426dupA
CLNSRC
CLNACC RCV000192070.1,