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rs1057519319

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519319(G;T)
Make rs1057519319(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position132902727
GeneTSC1
is asnp
is mentioned by
dbSNPrs1057519319
dbSNP (old)rs1057519319
ClinGenrs1057519319
ebirs1057519319
HLIrs1057519319
Exacrs1057519319
Gnomadrs1057519319
Varsomers1057519319
LitVarrs1057519319
Maprs1057519319
PheGenIrs1057519319
Biobankrs1057519319
1000 genomesrs1057519319
hgdprs1057519319
ensemblrs1057519319
gopubmedrs1057519319
geneviewrs1057519319
scholarrs1057519319
googlers1057519319
pharmgkbrs1057519319
gwascentralrs1057519319
openSNPrs1057519319
23andMers1057519319
23andMe allrs1057519319
SNPshotrs1057519319
SNPdbers1057519319
MSV3drs1057519319
GWAS Ctlgrs1057519319
Max Magnitude0
ClinVar
Risk rs1057519319(T;T)
Alt rs1057519319(T;T)
Reference Rs1057519319(G;G)
Significance Probable-Pathogenic
Disease Tuberous sclerosis 1
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis 1
Reversed 1
HGVS NC_000009.11:g.135778114C>A
CLNSRC
CLNACC RCV000416374.1,