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rs118203380

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCGTCTTGGTGT;GCGTCTTGGTGT) 0 common in clinvar
Make rs118203380(CA;CA)
Make rs118203380(CA;GCGTCTTGGTGT)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position132923450
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203380
dbSNP (old)rs118203380
ClinGenrs118203380
ebirs118203380
HLIrs118203380
Exacrs118203380
Gnomadrs118203380
Varsomers118203380
LitVarrs118203380
Maprs118203380
PheGenIrs118203380
Biobankrs118203380
1000 genomesrs118203380
hgdprs118203380
ensemblrs118203380
gopubmedrs118203380
geneviewrs118203380
scholarrs118203380
googlers118203380
pharmgkbrs118203380
gwascentralrs118203380
openSNPrs118203380
23andMers118203380
23andMe allrs118203380
SNPshotrs118203380
SNPdbers118203380
MSV3drs118203380
GWAS Ctlgrs118203380
Max Magnitude0
ClinVar
Risk rs118203380(CA;CA)
Alt rs118203380(CA;CA)
Reference Rs118203380(GCGTCTTGGTGT;GCGTCTTGGTGT)
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.135798837_135798848delACACCAAGACGCinsTG
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042290.2, RCV000467664.1,