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rs797044548

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044548(G;T)
Make rs797044548(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2498253
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs797044548
ebirs797044548
HLIrs797044548
Exacrs797044548
Varsomers797044548
Maprs797044548
PheGenIrs797044548
hapmaprs797044548
1000 genomesrs797044548
hgdprs797044548
ensemblrs797044548
gopubmedrs797044548
geneviewrs797044548
scholarrs797044548
googlers797044548
pharmgkbrs797044548
gwascentralrs797044548
openSNPrs797044548
23andMers797044548
23andMe allrs797044548
SNP Nexus

SNPshotrs797044548
SNPdbers797044548
MSV3drs797044548
GWAS Ctlgrs797044548
Max Magnitude0
ClinVar
Risk rs797044548(T;T)
Alt rs797044548(T;T)
Reference rs797044548(G;G)
Significance Pathogenic
Disease Digitorenocerebral syndrome
Variation info
Gene TBC1D24
CLNDBN Digitorenocerebral syndrome
Reversed 0
HGVS NC_000016.9:g.2548254G>T
CLNSRC
CLNACC RCV000192069.1,