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rs118203447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203447(A;A)
Make rs118203447(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position132912446
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203447
ebirs118203447
HLIrs118203447
Exacrs118203447
Varsomers118203447
Maprs118203447
PheGenIrs118203447
hapmaprs118203447
1000 genomesrs118203447
hgdprs118203447
ensemblrs118203447
gopubmedrs118203447
geneviewrs118203447
scholarrs118203447
googlers118203447
pharmgkbrs118203447
gwascentralrs118203447
openSNPrs118203447
23andMers118203447
23andMe allrs118203447
SNP Nexus

SNPshotrs118203447
SNPdbers118203447
MSV3drs118203447
GWAS Ctlgrs118203447
Max Magnitude0
OMIM605284
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203447(A,G;A,G)
Alt rs118203447(A,G;A,G)
Reference rs118203447(T;T)
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.135787833A>C; NC_000009.11:g.135787833A>T
CLNSRC Tuberous sclerosis database (TSC1) OMIM Allelic Variant
CLNACC RCV000042357.2, RCV000005404.2, RCV000042356.2,


[PMID 18772611] Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14.


[PMID 9242607] Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.


[PMID 9803264] A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.


[PMID 10363127] Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.


[PMID 10905251] Non-penetrance in tuberous sclerosis.