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rs796053512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796053512(C;T)
Make rs796053512(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2076129
GeneTSC2
is asnp
is mentioned by
dbSNPrs796053512
dbSNP (classic)rs796053512
ClinGenrs796053512
ebirs796053512
HLIrs796053512
Exacrs796053512
Gnomadrs796053512
Varsomers796053512
LitVarrs796053512
Maprs796053512
PheGenIrs796053512
Biobankrs796053512
1000 genomesrs796053512
hgdprs796053512
ensemblrs796053512
geneviewrs796053512
scholarrs796053512
googlers796053512
pharmgkbrs796053512
gwascentralrs796053512
openSNPrs796053512
23andMers796053512
SNPshotrs796053512
SNPdbers796053512
MSV3drs796053512
GWAS Ctlgrs796053512
Max Magnitude0
ClinVar
Risk rs796053512(T;T)
Alt rs796053512(T;T)
Reference Rs796053512(C;C)
Significance Probable-Pathogenic
Disease Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2126130C>T
CLNSRC
CLNACC RCV000231440.2,