rs118203396

Orientation

minus

Stabilized

minus

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

Make rs118203396(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

132921943

Gene

TSC1

is a	snp
is	mentioned by
dbSNP	rs118203396
dbSNP (classic)	rs118203396
ClinGen	rs118203396
ebi	rs118203396
HLI	rs118203396
Exac	rs118203396
Gnomad	rs118203396
Varsome	rs118203396
LitVar	rs118203396
Map	rs118203396
PheGenI	rs118203396
Biobank	rs118203396
1000 genomes	rs118203396
hgdp	rs118203396
ensembl	rs118203396
geneview	rs118203396
scholar	rs118203396
google	rs118203396
pharmgkb	rs118203396
gwascentral	rs118203396
openSNP	rs118203396
23andMe	rs118203396
SNPshot	rs118203396
SNPdbe	rs118203396
MSV3d	rs118203396
GWAS Ctlg	rs118203396

Max Magnitude

6.3

OMIM	605284
Desc
Variant	0009
Related	also

ClinVar
Risk	rs118203396(C;C)
Alt	rs118203396(C;C)
Reference	Rs118203396(T;T)
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.135797330A>G
CLNSRC	OMIM Allelic Variant Tuberous sclerosis database (TSC1) UniProtKB (protein)
CLNACC	RCV000005412.3, RCV000042306.2,

[PMID 18830229] Missense mutations to the TSC1 gene cause tuberous sclerosis complex.