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rs137854368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TG) 6.3 Tuberous Sclerosis Complex
(I;I) 0 common genotype
(TG;TG) 0 common in clinvar


Make rs137854368(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2084337
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854368
dbSNP (classic)rs137854368
ClinGenrs137854368
ebirs137854368
HLIrs137854368
Exacrs137854368
Gnomadrs137854368
Varsomers137854368
LitVarrs137854368
Maprs137854368
PheGenIrs137854368
Biobankrs137854368
1000 genomesrs137854368
hgdprs137854368
ensemblrs137854368
geneviewrs137854368
scholarrs137854368
googlers137854368
pharmgkbrs137854368
gwascentralrs137854368
openSNPrs137854368
23andMers137854368
SNPshotrs137854368
SNPdbers137854368
MSV3drs137854368
GWAS Ctlgrs137854368
Max Magnitude6.3
ClinVar
Risk rs137854368(-;-)
Alt rs137854368(-;-)
Reference Rs137854368(TG;TG)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2134338_2134339delTG
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042543.2, RCV000201043.1,