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rs797044547

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797044547(C;C)
Make rs797044547(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2496461
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs797044547
ebirs797044547
HLIrs797044547
Exacrs797044547
Varsomers797044547
Maprs797044547
PheGenIrs797044547
hapmaprs797044547
1000 genomesrs797044547
hgdprs797044547
ensemblrs797044547
gopubmedrs797044547
geneviewrs797044547
scholarrs797044547
googlers797044547
pharmgkbrs797044547
gwascentralrs797044547
openSNPrs797044547
23andMers797044547
23andMe allrs797044547
SNP Nexus

SNPshotrs797044547
SNPdbers797044547
MSV3drs797044547
GWAS Ctlgrs797044547
Max Magnitude0
ClinVar
Risk rs797044547(C;C)
Alt rs797044547(C;C)
Reference rs797044547(T;T)
Significance Pathogenic
Disease Digitorenocerebral syndrome
Variation info
Gene TBC1D24
CLNDBN Digitorenocerebral syndrome
Reversed 0
HGVS NC_000016.9:g.2546462T>C
CLNSRC
CLNACC RCV000192067.1,