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rs1060499647

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499647(-;-)
Make rs1060499647(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2064410
GeneTSC2
is asnp
is mentioned by
dbSNPrs1060499647
dbSNP (classic)rs1060499647
ClinGenrs1060499647
ebirs1060499647
HLIrs1060499647
Exacrs1060499647
Gnomadrs1060499647
Varsomers1060499647
LitVarrs1060499647
Maprs1060499647
PheGenIrs1060499647
Biobankrs1060499647
1000 genomesrs1060499647
hgdprs1060499647
ensemblrs1060499647
geneviewrs1060499647
scholarrs1060499647
googlers1060499647
pharmgkbrs1060499647
gwascentralrs1060499647
openSNPrs1060499647
23andMers1060499647
SNPshotrs1060499647
SNPdbers1060499647
MSV3drs1060499647
GWAS Ctlgrs1060499647
Max Magnitude0
ClinVar
Risk rs1060499647(-;-)
Alt rs1060499647(-;-)
Reference Rs1060499647(C;C)
Significance Pathogenic
Disease Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2114411delC
CLNSRC
CLNACC RCV000461470.1,