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rs1060500938

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1060500938(-;-)
Make rs1060500938(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2074383
GeneTSC2
is asnp
is mentioned by
dbSNPrs1060500938
dbSNP (old)rs1060500938
ClinGenrs1060500938
ebirs1060500938
HLIrs1060500938
Exacrs1060500938
Gnomadrs1060500938
Varsomers1060500938
Maprs1060500938
PheGenIrs1060500938
Biobankrs1060500938
1000 genomesrs1060500938
hgdprs1060500938
ensemblrs1060500938
gopubmedrs1060500938
geneviewrs1060500938
scholarrs1060500938
googlers1060500938
pharmgkbrs1060500938
gwascentralrs1060500938
openSNPrs1060500938
23andMers1060500938
23andMe allrs1060500938
SNPshotrs1060500938
SNPdbers1060500938
MSV3drs1060500938
GWAS Ctlgrs1060500938
Max Magnitude0
ClinVar
Risk rs1060500938(-;-)
Alt rs1060500938(-;-)
Reference Rs1060500938(CT;CT)
Significance Pathogenic
Disease Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2124384_2124385delCT
CLNSRC
CLNACC RCV000473256.1,