rs118203557

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;CAGTGCTGATGAAAGCCCTGCGG)	6.3	Tuberous Sclerosis Complex
(CAGTGCTGATGAAAGCCCTGCGG;CAGTGCTGATGAAAGCCCTGCGG)	0	common in clinvar
(CCCTGCGGCAGTGCTGATGAAAG;CCCTGCGGCAGTGCTGATGAAAG)	0	common in clinvar
(GCCCTGCGGCAGTGCTGATGAAA;GCCCTGCGGCAGTGCTGATGAAA)	0	common in clinvar

Make rs118203557(-;-)

Make rs118203557(-;GCCCTGCGGCAGTGCTGATGAAA)

Reference

GRCh38 38.1/141

Chromosome

9

Position

132905885

Gene

TSC1

is a	snp
is	mentioned by
dbSNP	rs118203557
dbSNP (classic)	rs118203557
ClinGen	rs118203557
ebi	rs118203557
HLI	rs118203557
Exac	rs118203557
Gnomad	rs118203557
Varsome	rs118203557
LitVar	rs118203557
Map	rs118203557
PheGenI	rs118203557
Biobank	rs118203557
1000 genomes	rs118203557
hgdp	rs118203557
ensembl	rs118203557
geneview	rs118203557
scholar	rs118203557
google	rs118203557
pharmgkb	rs118203557
gwascentral	rs118203557
openSNP	rs118203557
23andMe	rs118203557
SNPshot	rs118203557
SNPdbe	rs118203557
MSV3d	rs118203557
GWAS Ctlg	rs118203557

Merged from

Rs397514818

Max Magnitude

6.3

ClinVar
Risk	Rs118203557(CAGTGCTGATGAAAGCCCTGCGG;CAGTGCTGATGAAAGCCCTGCGG) rs118203557(-;-)
Alt	Rs118203557(CAGTGCTGATGAAAGCCCTGCGG;CAGTGCTGATGAAAGCCCTGCGG) rs118203557(-;-)
Reference	Rs118203557(GCCCTGCGGCAGTGCTGATGAAA;GCCCTGCGGCAGTGCTGATGAAA)
Significance	Pathogenic
Disease	Tuberous sclerosis 1 Tuberous sclerosis syndrome
Variation	info
Gene	TSC1
CLNDBN	Tuberous sclerosis 1 Tuberous sclerosis syndrome
Reversed	1
HGVS	NC_000009.11:g.135781263_135781285del23
CLNSRC	OMIM Allelic Variant Tuberous sclerosis database (TSC1)
CLNACC	RCV000005407.2, RCV000054946.1,

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

[PMID 10227394] Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.