Have questions? Visit https://www.reddit.com/r/SNPedia

rs118203427

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203427(C;T)
Make rs118203427(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132921418
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203427
ebirs118203427
HLIrs118203427
Exacrs118203427
Varsomers118203427
Maprs118203427
PheGenIrs118203427
hapmaprs118203427
1000 genomesrs118203427
hgdprs118203427
ensemblrs118203427
gopubmedrs118203427
geneviewrs118203427
scholarrs118203427
googlers118203427
pharmgkbrs118203427
gwascentralrs118203427
openSNPrs118203427
23andMers118203427
23andMe allrs118203427
SNP Nexus

SNPshotrs118203427
SNPdbers118203427
MSV3drs118203427
GWAS Ctlgrs118203427
Max Magnitude0
ClinVar
Risk rs118203427(T;T)
Alt rs118203427(T;T)
Reference rs118203427(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided Tuberous sclerosis 1
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome not provided Tuberous sclerosis 1
Reversed 1
HGVS NC_000009.11:g.135796805G>A
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042337.2, RCV000189836.1, RCV000201126.2,