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rs118203360

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TC) 6.3 Tuberous Sclerosis Complex
(TC;TC) 0 common in clinvar


Make rs118203360(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132925678
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203360
dbSNP (classic)rs118203360
ClinGenrs118203360
ebirs118203360
HLIrs118203360
Exacrs118203360
Gnomadrs118203360
Varsomers118203360
LitVarrs118203360
Maprs118203360
PheGenIrs118203360
Biobankrs118203360
1000 genomesrs118203360
hgdprs118203360
ensemblrs118203360
geneviewrs118203360
scholarrs118203360
googlers118203360
pharmgkbrs118203360
gwascentralrs118203360
openSNPrs118203360
23andMers118203360
SNPshotrs118203360
SNPdbers118203360
MSV3drs118203360
GWAS Ctlgrs118203360
Max Magnitude6.3
ClinVar
Risk rs118203360(-;-)
Alt rs118203360(-;-)
Reference Rs118203360(TC;TC)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 1
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 1
Reversed 1
HGVS NC_000009.11:g.135801065_135801066delGA
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042247.2, RCV000201195.1,