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rs118203708

From SNPedia

Merged intors118203707
Orientationminus
Stabilizedminus
Geno Mag Summary
(AACA;AACA) 0 common in clinvar
Make rs118203708(-;-)
Make rs118203708(-;AACA)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132900828
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203708
dbSNP (classic)rs118203708
ClinGenrs118203708
ebirs118203708
HLIrs118203708
Exacrs118203708
Gnomadrs118203708
Varsomers118203708
LitVarrs118203708
Maprs118203708
PheGenIrs118203708
Biobankrs118203708
1000 genomesrs118203708
hgdprs118203708
ensemblrs118203708
geneviewrs118203708
scholarrs118203708
googlers118203708
pharmgkbrs118203708
gwascentralrs118203708
openSNPrs118203708
23andMers118203708
SNPshotrs118203708
SNPdbers118203708
MSV3drs118203708
GWAS Ctlgrs118203708
StatusMerged into rs118203707
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs118203708(AACA;AACA)
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.135776215_135776218delTGTT
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042222.3, RCV000201118.1,