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rs118203388

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203388(A;A)
Make rs118203388(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position132923361
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203388
ebirs118203388
HLIrs118203388
Exacrs118203388
Varsomers118203388
Maprs118203388
PheGenIrs118203388
hapmaprs118203388
1000 genomesrs118203388
hgdprs118203388
ensemblrs118203388
gopubmedrs118203388
geneviewrs118203388
scholarrs118203388
googlers118203388
pharmgkbrs118203388
gwascentralrs118203388
openSNPrs118203388
23andMers118203388
23andMe allrs118203388
SNP Nexus

SNPshotrs118203388
SNPdbers118203388
MSV3drs118203388
GWAS Ctlgrs118203388
Max Magnitude0
OMIM605284
Desc
Variant0006
Relatedalso
ClinVar
Risk rs118203388(A;A)
Alt rs118203388(A;A)
Reference rs118203388(C;C)
Significance Pathogenic
Disease Lymphangiomyomatosis
Variation info
Gene TSC1
CLNDBN Lymphangiomyomatosis
Reversed 1
HGVS NC_000009.11:g.135798748G>T
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC1)
CLNACC RCV000005408.3,


[PMID 11829138] Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.