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rs118203707

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAAC;AAAC) 0 common in clinvar
(AACA;AACA) 0 common in clinvar
Make rs118203707(-;-)
Make rs118203707(-;AAAC)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132900829
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203707
dbSNP (old)rs118203707
ClinGenrs118203707
ebirs118203707
HLIrs118203707
Exacrs118203707
Gnomadrs118203707
Varsomers118203707
Maprs118203707
PheGenIrs118203707
Biobankrs118203707
1000 genomesrs118203707
hgdprs118203707
ensemblrs118203707
gopubmedrs118203707
geneviewrs118203707
scholarrs118203707
googlers118203707
pharmgkbrs118203707
gwascentralrs118203707
openSNPrs118203707
23andMers118203707
23andMe allrs118203707
SNP Nexus

SNPshotrs118203707
SNPdbers118203707
MSV3drs118203707
GWAS Ctlgrs118203707
Merged fromRs118203708
Max Magnitude0
ClinVar
Risk Rs118203707(AACA;AACA) rs118203707(-;-)
Alt Rs118203707(AACA;AACA) rs118203707(-;-)
Reference Rs118203707(AAAC;AAAC)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 1 Cortical tubers Multiple renal cysts Seizures
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 1 Cortical tubers Multiple renal cysts Seizures
Reversed 1
HGVS NC_000009.11:g.135776215_135776218delTGTT
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042222.3, RCV000201118.1, RCV000415443.1,