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rs1060500950

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AATGACT;AATGACT) 0 common in clinvar
Make rs1060500950(-;-)
Make rs1060500950(-;AATGACT)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2086833
GeneTSC2
is asnp
is mentioned by
dbSNPrs1060500950
dbSNP (old)rs1060500950
ClinGenrs1060500950
ebirs1060500950
HLIrs1060500950
Exacrs1060500950
Gnomadrs1060500950
Varsomers1060500950
Maprs1060500950
PheGenIrs1060500950
Biobankrs1060500950
1000 genomesrs1060500950
hgdprs1060500950
ensemblrs1060500950
gopubmedrs1060500950
geneviewrs1060500950
scholarrs1060500950
googlers1060500950
pharmgkbrs1060500950
gwascentralrs1060500950
openSNPrs1060500950
23andMers1060500950
23andMe allrs1060500950
SNPshotrs1060500950
SNPdbers1060500950
MSV3drs1060500950
GWAS Ctlgrs1060500950
Max Magnitude0
ClinVar
Risk rs1060500950(-;-)
Alt rs1060500950(-;-)
Reference Rs1060500950(AATGACT;AATGACT)
Significance Pathogenic
Disease Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2136834_2136840delAATGACT
CLNSRC
CLNACC RCV000469350.1,