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rs1060500931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500931(C;T)
Make rs1060500931(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2064302
GeneTSC2
is asnp
is mentioned by
dbSNPrs1060500931
dbSNP (old)rs1060500931
ClinGenrs1060500931
ebirs1060500931
HLIrs1060500931
Exacrs1060500931
Gnomadrs1060500931
Varsomers1060500931
Maprs1060500931
PheGenIrs1060500931
Biobankrs1060500931
1000 genomesrs1060500931
hgdprs1060500931
ensemblrs1060500931
gopubmedrs1060500931
geneviewrs1060500931
scholarrs1060500931
googlers1060500931
pharmgkbrs1060500931
gwascentralrs1060500931
openSNPrs1060500931
23andMers1060500931
23andMe allrs1060500931
SNPshotrs1060500931
SNPdbers1060500931
MSV3drs1060500931
GWAS Ctlgrs1060500931
Max Magnitude0
ClinVar
Risk rs1060500931(T;T)
Alt rs1060500931(T;T)
Reference Rs1060500931(C;C)
Significance Pathogenic
Disease Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2114303C>T
CLNSRC
CLNACC RCV000471983.1,