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rs118203680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203680(C;T)
Make rs118203680(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position132902655
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203680
dbSNP (classic)rs118203680
ClinGenrs118203680
ebirs118203680
HLIrs118203680
Exacrs118203680
Gnomadrs118203680
Varsomers118203680
LitVarrs118203680
Maprs118203680
PheGenIrs118203680
Biobankrs118203680
1000 genomesrs118203680
hgdprs118203680
ensemblrs118203680
geneviewrs118203680
scholarrs118203680
googlers118203680
pharmgkbrs118203680
gwascentralrs118203680
openSNPrs118203680
23andMers118203680
23andMe allrs118203680
SNPshotrs118203680
SNPdbers118203680
MSV3drs118203680
GWAS Ctlgrs118203680
Max Magnitude0
ClinVar
Risk rs118203680(T;T)
Alt rs118203680(T;T)
Reference Rs118203680(C;C)
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.135778042G>A
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042192.2, RCV000473593.1,