rs118203542

Orientation

minus

Stabilized

minus

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

Make rs118203542(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

132906053

Gene

TSC1

is a	snp
is	mentioned by
dbSNP	rs118203542
dbSNP (classic)	rs118203542
ClinGen	rs118203542
ebi	rs118203542
HLI	rs118203542
Exac	rs118203542
Gnomad	rs118203542
Varsome	rs118203542
LitVar	rs118203542
Map	rs118203542
PheGenI	rs118203542
Biobank	rs118203542
1000 genomes	rs118203542
hgdp	rs118203542
ensembl	rs118203542
geneview	rs118203542
scholar	rs118203542
google	rs118203542
pharmgkb	rs118203542
gwascentral	rs118203542
openSNP	rs118203542
23andMe	rs118203542
SNPshot	rs118203542
SNPdbe	rs118203542
MSV3d	rs118203542
GWAS Ctlg	rs118203542

Max Magnitude

6.3

ClinVar
Risk	rs118203542(T;T)
Alt	rs118203542(T;T)
Reference	Rs118203542(C;C)
Significance	Pathogenic
Disease	Tuberous sclerosis syndrome Malignant tumor of urinary bladder not provided Tuberous sclerosis 1
Variation	info
Gene	TSC1
CLNDBN	Tuberous sclerosis syndrome Malignant tumor of urinary bladder not provided Tuberous sclerosis 1
Reversed	1
HGVS	NC_000009.11:g.135781440G>A
CLNSRC	Tuberous sclerosis database (TSC1)
CLNACC	RCV000042043.2, RCV000055036.1, RCV000189847.3, RCV000201132.1,