rs45462194

Orientation

plus

Stabilized

plus

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

Make rs45462194(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

2081595

Gene

TSC2

is a	snp
is	mentioned by
dbSNP	rs45462194
dbSNP (classic)	rs45462194
ClinGen	rs45462194
ebi	rs45462194
HLI	rs45462194
Exac	rs45462194
Gnomad	rs45462194
Varsome	rs45462194
LitVar	rs45462194
Map	rs45462194
PheGenI	rs45462194
Biobank	rs45462194
1000 genomes	rs45462194
hgdp	rs45462194
ensembl	rs45462194
geneview	rs45462194
scholar	rs45462194
google	rs45462194
pharmgkb	rs45462194
gwascentral	rs45462194
openSNP	rs45462194
23andMe	rs45462194
SNPshot	rs45462194
SNPdbe	rs45462194
MSV3d	rs45462194
GWAS Ctlg	rs45462194

Max Magnitude

6.3

ClinVar
Risk	rs45462194(A;A)
Alt	rs45462194(A;A)
Reference	Rs45462194(G;G)
Significance	Probable-Pathogenic
Disease	Tuberous sclerosis syndrome Tuberous sclerosis 2 not provided
Variation	info
Gene	TSC2
CLNDBN	Tuberous sclerosis syndrome Tuberous sclerosis 2 not provided
Reversed	0
HGVS	NC_000016.9:g.2131596G>A
CLNSRC	Tuberous sclerosis database (TSC2)
CLNACC	RCV000043416.2, RCV000201026.1, RCV000414012.1,