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rs118203682

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203682(C;T)
Make rs118203682(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132902640
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203682
ebirs118203682
HLIrs118203682
Exacrs118203682
Varsomers118203682
Maprs118203682
PheGenIrs118203682
hapmaprs118203682
1000 genomesrs118203682
hgdprs118203682
ensemblrs118203682
gopubmedrs118203682
geneviewrs118203682
scholarrs118203682
googlers118203682
pharmgkbrs118203682
gwascentralrs118203682
openSNPrs118203682
23andMers118203682
23andMe allrs118203682
SNP Nexus

SNPshotrs118203682
SNPdbers118203682
MSV3drs118203682
GWAS Ctlgrs118203682
Max Magnitude0
ClinVar
Risk rs118203682(T;T)
Alt rs118203682(T;T)
Reference rs118203682(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.135778027G>A
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042194.2, RCV000201048.1,