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rs118203544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AC;AC) 0 common in clinvar
(CA;CA) 0 common in clinvar
Make rs118203544(-;-)
Make rs118203544(-;AC)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position132906048
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203544
dbSNP (classic)rs118203544
ClinGenrs118203544
ebirs118203544
HLIrs118203544
Exacrs118203544
Gnomadrs118203544
Varsomers118203544
LitVarrs118203544
Maprs118203544
PheGenIrs118203544
Biobankrs118203544
1000 genomesrs118203544
hgdprs118203544
ensemblrs118203544
geneviewrs118203544
scholarrs118203544
googlers118203544
pharmgkbrs118203544
gwascentralrs118203544
openSNPrs118203544
23andMers118203544
SNPshotrs118203544
SNPdbers118203544
MSV3drs118203544
GWAS Ctlgrs118203544
Merged fromRs878853960
Max Magnitude0
ClinVar
Risk Rs118203544(CA;CA) rs118203544(-;-)
Alt Rs118203544(CA;CA) rs118203544(-;-)
Reference Rs118203544(AC;AC)
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.135781434_135781435delTG
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042045.2, RCV000227889.1,