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rs137854314

From SNPedia

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


Make rs137854314(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2080168
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854314
dbSNP (classic)rs137854314
ClinGenrs137854314
ebirs137854314
HLIrs137854314
Exacrs137854314
Gnomadrs137854314
Varsomers137854314
LitVarrs137854314
Maprs137854314
PheGenIrs137854314
Biobankrs137854314
1000 genomesrs137854314
hgdprs137854314
ensemblrs137854314
geneviewrs137854314
scholarrs137854314
googlers137854314
pharmgkbrs137854314
gwascentralrs137854314
openSNPrs137854314
23andMers137854314
SNPshotrs137854314
SNPdbers137854314
MSV3drs137854314
GWAS Ctlgrs137854314
Max Magnitude6.3
ClinVar
Risk rs137854314(-;-)
Alt rs137854314(-;-)
Reference Rs137854314(G;G)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2130169delG
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043342.2, RCV000190061.1, RCV000201003.1,