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rs1060500924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500924(G;T)
Make rs1060500924(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2054380
GeneTSC2
is asnp
is mentioned by
dbSNPrs1060500924
dbSNP (old)rs1060500924
ClinGenrs1060500924
ebirs1060500924
HLIrs1060500924
Exacrs1060500924
Gnomadrs1060500924
Varsomers1060500924
Maprs1060500924
PheGenIrs1060500924
Biobankrs1060500924
1000 genomesrs1060500924
hgdprs1060500924
ensemblrs1060500924
gopubmedrs1060500924
geneviewrs1060500924
scholarrs1060500924
googlers1060500924
pharmgkbrs1060500924
gwascentralrs1060500924
openSNPrs1060500924
23andMers1060500924
23andMe allrs1060500924
SNPshotrs1060500924
SNPdbers1060500924
MSV3drs1060500924
GWAS Ctlgrs1060500924
Max Magnitude0
ClinVar
Risk rs1060500924(T;T)
Alt rs1060500924(T;T)
Reference Rs1060500924(G;G)
Significance Pathogenic
Disease Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2104381G>T
CLNSRC
CLNACC RCV000458135.1,