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rs878853960

From SNPedia

Merged intors118203544
Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs878853960(-;-)
Make rs878853960(-;CA)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position132906047
GeneTSC1
is asnp
is mentioned by
dbSNPrs878853960
dbSNP (classic)rs878853960
ClinGenrs878853960
ebirs878853960
HLIrs878853960
Exacrs878853960
Gnomadrs878853960
Varsomers878853960
LitVarrs878853960
Maprs878853960
PheGenIrs878853960
Biobankrs878853960
1000 genomesrs878853960
hgdprs878853960
ensemblrs878853960
geneviewrs878853960
scholarrs878853960
googlers878853960
pharmgkbrs878853960
gwascentralrs878853960
openSNPrs878853960
23andMers878853960
SNPshotrs878853960
SNPdbers878853960
MSV3drs878853960
GWAS Ctlgrs878853960
StatusMerged into rs118203544
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs878853960(CA;CA)
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,