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rs118203387

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203387(A;A)
Make rs118203387(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132923365
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203387
ebirs118203387
HLIrs118203387
Exacrs118203387
Varsomers118203387
Maprs118203387
PheGenIrs118203387
hapmaprs118203387
1000 genomesrs118203387
hgdprs118203387
ensemblrs118203387
gopubmedrs118203387
geneviewrs118203387
scholarrs118203387
googlers118203387
pharmgkbrs118203387
gwascentralrs118203387
openSNPrs118203387
23andMers118203387
23andMe allrs118203387
SNP Nexus

SNPshotrs118203387
SNPdbers118203387
MSV3drs118203387
GWAS Ctlgrs118203387
Max Magnitude0
ClinVar
Risk rs118203387(A;A)
Alt rs118203387(A;A)
Reference rs118203387(G;G)
Significance Pathogenic
Disease Lymphangiomyomatosis Tuberous sclerosis syndrome not provided
Variation info
Gene TSC1
CLNDBN Lymphangiomyomatosis Tuberous sclerosis syndrome not provided
Reversed 1
HGVS NC_000009.11:g.135798752C>T
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042297.2, RCV000189835.1,