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rs137854249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs137854249(-;-)
Make rs137854249(-;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2086816
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854249
dbSNP (classic)rs137854249
ClinGenrs137854249
ebirs137854249
HLIrs137854249
Exacrs137854249
Gnomadrs137854249
Varsomers137854249
LitVarrs137854249
Maprs137854249
PheGenIrs137854249
Biobankrs137854249
1000 genomesrs137854249
hgdprs137854249
ensemblrs137854249
geneviewrs137854249
scholarrs137854249
googlers137854249
pharmgkbrs137854249
gwascentralrs137854249
openSNPrs137854249
23andMers137854249
SNPshotrs137854249
SNPdbers137854249
MSV3drs137854249
GWAS Ctlgrs137854249
Max Magnitude0
ClinVar
Risk rs137854249(-;-)
Alt rs137854249(-;-)
Reference Rs137854249(TT;TT)
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.2136817_2136818delTT
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043248.2, RCV000201116.1,