rs118203352

Orientation

minus

Stabilized

minus

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

Make rs118203352(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

132925741

Gene

TSC1

is a	snp
is	mentioned by
dbSNP	rs118203352
dbSNP (classic)	rs118203352
ClinGen	rs118203352
ebi	rs118203352
HLI	rs118203352
Exac	rs118203352
Gnomad	rs118203352
Varsome	rs118203352
LitVar	rs118203352
Map	rs118203352
PheGenI	rs118203352
Biobank	rs118203352
1000 genomes	rs118203352
hgdp	rs118203352
ensembl	rs118203352
geneview	rs118203352
scholar	rs118203352
google	rs118203352
pharmgkb	rs118203352
gwascentral	rs118203352
openSNP	rs118203352
23andMe	rs118203352
SNPshot	rs118203352
SNPdbe	rs118203352
MSV3d	rs118203352
GWAS Ctlg	rs118203352

Max Magnitude

6.3

ClinVar
Risk	rs118203352(C;C)
Alt	rs118203352(C;C)
Reference	Rs118203352(A;A)
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.135801128T>G
CLNSRC	Tuberous sclerosis database (TSC1)
CLNACC	RCV000042154.2, RCV000201170.1,