rs45517182

Orientation

plus

Stabilized

plus

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

Make rs45517182(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

2064428

Gene

TSC2

is a	snp
is	mentioned by
dbSNP	rs45517182
dbSNP (classic)	rs45517182
ClinGen	rs45517182
ebi	rs45517182
HLI	rs45517182
Exac	rs45517182
Gnomad	rs45517182
Varsome	rs45517182
LitVar	rs45517182
Map	rs45517182
PheGenI	rs45517182
Biobank	rs45517182
1000 genomes	rs45517182
hgdp	rs45517182
ensembl	rs45517182
geneview	rs45517182
scholar	rs45517182
google	rs45517182
pharmgkb	rs45517182
gwascentral	rs45517182
openSNP	rs45517182
23andMe	rs45517182
SNPshot	rs45517182
SNPdbe	rs45517182
MSV3d	rs45517182
GWAS Ctlg	rs45517182

Max Magnitude

6.3

ClinVar
Risk	rs45517182(A;A) rs45517182(T;T)
Alt	rs45517182(A;A) rs45517182(T;T)
Reference	Rs45517182(G;G)
Significance	Pathogenic
Disease	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome
Variation	info
Gene	TSC2
CLNDBN	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000016.9:g.2114429G>A; NC_000016.9:g.2114429G>T
CLNSRC	Tuberous sclerosis database (TSC2)
CLNACC	RCV000042908.2, RCV000201163.1, RCV000490888.1, RCV000055409.1,