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rs118203712

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 6.3 Tuberous Sclerosis Complex
(G;G) 0 common in clinvar


Make rs118203712(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132900771
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203712
dbSNP (classic)rs118203712
ClinGenrs118203712
ebirs118203712
HLIrs118203712
Exacrs118203712
Gnomadrs118203712
Varsomers118203712
LitVarrs118203712
Maprs118203712
PheGenIrs118203712
Biobankrs118203712
1000 genomesrs118203712
hgdprs118203712
ensemblrs118203712
geneviewrs118203712
scholarrs118203712
googlers118203712
pharmgkbrs118203712
gwascentralrs118203712
openSNPrs118203712
23andMers118203712
SNPshotrs118203712
SNPdbers118203712
MSV3drs118203712
GWAS Ctlgrs118203712
Max Magnitude6.3
ClinVar
Risk rs118203712(-;-)
Alt rs118203712(-;-)
Reference Rs118203712(G;G)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 1
HGVS NC_000009.11:g.135776158delC
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042228.2, RCV000189877.1,