rs45517340

Orientation

plus

Stabilized

plus

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

Make rs45517340(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

2084597

Gene

TSC2

is a	snp
is	mentioned by
dbSNP	rs45517340
dbSNP (classic)	rs45517340
ClinGen	rs45517340
ebi	rs45517340
HLI	rs45517340
Exac	rs45517340
Gnomad	rs45517340
Varsome	rs45517340
LitVar	rs45517340
Map	rs45517340
PheGenI	rs45517340
Biobank	rs45517340
1000 genomes	rs45517340
hgdp	rs45517340
ensembl	rs45517340
geneview	rs45517340
scholar	rs45517340
google	rs45517340
pharmgkb	rs45517340
gwascentral	rs45517340
openSNP	rs45517340
23andMe	rs45517340
SNPshot	rs45517340
SNPdbe	rs45517340
MSV3d	rs45517340
GWAS Ctlg	rs45517340

Max Magnitude

6.3

ClinVar
Risk	rs45517340(T;T)
Alt	rs45517340(T;T)
Reference	Rs45517340(C;C)
Significance	Pathogenic
Disease	Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Variation	info
Gene	TSC2
CLNDBN	Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Reversed	0
HGVS	NC_000016.9:g.2134598C>T
CLNSRC	Tuberous sclerosis database (TSC2)
CLNACC	RCV000043253.2, RCV000190004.2, RCV000201120.2,