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rs1060500934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500934(-;-)
Make rs1060500934(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2071846
GeneTSC2
is asnp
is mentioned by
dbSNPrs1060500934
dbSNP (classic)rs1060500934
ClinGenrs1060500934
ebirs1060500934
HLIrs1060500934
Exacrs1060500934
Gnomadrs1060500934
Varsomers1060500934
LitVarrs1060500934
Maprs1060500934
PheGenIrs1060500934
Biobankrs1060500934
1000 genomesrs1060500934
hgdprs1060500934
ensemblrs1060500934
geneviewrs1060500934
scholarrs1060500934
googlers1060500934
pharmgkbrs1060500934
gwascentralrs1060500934
openSNPrs1060500934
23andMers1060500934
SNPshotrs1060500934
SNPdbers1060500934
MSV3drs1060500934
GWAS Ctlgrs1060500934
Max Magnitude0
ClinVar
Risk rs1060500934(-;-)
Alt rs1060500934(-;-)
Reference Rs1060500934(C;C)
Significance Pathogenic
Disease Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2121847delC
CLNSRC
CLNACC RCV000462786.1,