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rs137853982

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 6.3 Tuberous Sclerosis Complex
Make rs137853982(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2054311
GeneTSC2
is asnp
is mentioned by
dbSNPrs137853982
dbSNP (classic)rs137853982
ClinGenrs137853982
ebirs137853982
HLIrs137853982
Exacrs137853982
Gnomadrs137853982
Varsomers137853982
LitVarrs137853982
Maprs137853982
PheGenIrs137853982
Biobankrs137853982
1000 genomesrs137853982
hgdprs137853982
ensemblrs137853982
geneviewrs137853982
scholarrs137853982
googlers137853982
pharmgkbrs137853982
gwascentralrs137853982
openSNPrs137853982
23andMers137853982
SNPshotrs137853982
SNPdbers137853982
MSV3drs137853982
GWAS Ctlgrs137853982
Max Magnitude6.3
ClinVar
Risk rs137853982(G;G)
Alt rs137853982(G;G)
Reference Rs137853982(-;-)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 0
HGVS NC_000016.9:g.2104312dupG
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042521.2, RCV000190065.1,