rs118203447

minus

Geno	Mag	Summary
(A;T)	6.3	Tuberous Sclerosis Complex
(T;T)	0	common in clinvar

Make rs118203447(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

132912446

Gene

TSC1

is a	snp
is	mentioned by
dbSNP	rs118203447
dbSNP (classic)	rs118203447
ClinGen	rs118203447
ebi	rs118203447
HLI	rs118203447
Exac	rs118203447
Gnomad	rs118203447
Varsome	rs118203447
LitVar	rs118203447
Map	rs118203447
PheGenI	rs118203447
Biobank	rs118203447
1000 genomes	rs118203447
hgdp	rs118203447
ensembl	rs118203447
geneview	rs118203447
scholar	rs118203447
google	rs118203447
pharmgkb	rs118203447
gwascentral	rs118203447
openSNP	rs118203447
23andMe	rs118203447
SNPshot	rs118203447
SNPdbe	rs118203447
MSV3d	rs118203447
GWAS Ctlg	rs118203447

Max Magnitude

6.3

OMIM	605284
Desc
Variant	0002
Related	also

ClinVar
Risk	rs118203447(A;A) rs118203447(G;G)
Alt	rs118203447(A;A) rs118203447(G;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.