rs118203427

Orientation

minus

Stabilized

minus

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

Make rs118203427(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

132921418

Gene

TSC1

is a	snp
is	mentioned by
dbSNP	rs118203427
dbSNP (classic)	rs118203427
ClinGen	rs118203427
ebi	rs118203427
HLI	rs118203427
Exac	rs118203427
Gnomad	rs118203427
Varsome	rs118203427
LitVar	rs118203427
Map	rs118203427
PheGenI	rs118203427
Biobank	rs118203427
1000 genomes	rs118203427
hgdp	rs118203427
ensembl	rs118203427
geneview	rs118203427
scholar	rs118203427
google	rs118203427
pharmgkb	rs118203427
gwascentral	rs118203427
openSNP	rs118203427
23andMe	rs118203427
SNPshot	rs118203427
SNPdbe	rs118203427
MSV3d	rs118203427
GWAS Ctlg	rs118203427

Max Magnitude

6.3

ClinVar
Risk	rs118203427(T;T)
Alt	rs118203427(T;T)
Reference	Rs118203427(C;C)
Significance	Pathogenic
Disease	Tuberous sclerosis syndrome not provided Tuberous sclerosis 1
Variation	info
Gene	TSC1
CLNDBN	Tuberous sclerosis syndrome not provided Tuberous sclerosis 1
Reversed	1
HGVS	NC_000009.11:g.135796805G>A
CLNSRC	Tuberous sclerosis database (TSC1)
CLNACC	RCV000042337.2, RCV000189836.2, RCV000201126.3,