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rs863225039

From SNPedia

Merged intors118203726
Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs863225039(-;-)
Make rs863225039(-;GA)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132897560
GeneTSC1
is asnp
is mentioned by
dbSNPrs863225039
dbSNP (classic)rs863225039
ClinGenrs863225039
ebirs863225039
HLIrs863225039
Exacrs863225039
Gnomadrs863225039
Varsomers863225039
LitVarrs863225039
Maprs863225039
PheGenIrs863225039
Biobankrs863225039
1000 genomesrs863225039
hgdprs863225039
ensemblrs863225039
geneviewrs863225039
scholarrs863225039
googlers863225039
pharmgkbrs863225039
gwascentralrs863225039
openSNPrs863225039
23andMers863225039
SNPshotrs863225039
SNPdbers863225039
MSV3drs863225039
GWAS Ctlgrs863225039
StatusMerged into rs118203726
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs863225039(GA;GA)
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.135772947_135772948delTC
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042241.2, RCV000201049.1,