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rs118203451

From SNPedia

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


Make rs118203451(-;-)
ReferenceGRCh38 38.1/142
Chromosome9
Position132912382
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203451
dbSNP (classic)rs118203451
ClinGenrs118203451
ebirs118203451
HLIrs118203451
Exacrs118203451
Gnomadrs118203451
Varsomers118203451
LitVarrs118203451
Maprs118203451
PheGenIrs118203451
Biobankrs118203451
1000 genomesrs118203451
hgdprs118203451
ensemblrs118203451
geneviewrs118203451
scholarrs118203451
googlers118203451
pharmgkbrs118203451
gwascentralrs118203451
openSNPrs118203451
23andMers118203451
SNPshotrs118203451
SNPdbers118203451
MSV3drs118203451
GWAS Ctlgrs118203451
Max Magnitude6.3
ClinVar
Risk rs118203451(-;-)
Alt rs118203451(-;-)
Reference Rs118203451(AT;AT)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000009.11:g.135787769_135787770delAT
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042362.2, RCV000130030.2,