rs45517399

Orientation

plus

Stabilized

plus

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

Make rs45517399(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

2088140

Gene

TSC2

is a	snp
is	mentioned by
dbSNP	rs45517399
dbSNP (classic)	rs45517399
ClinGen	rs45517399
ebi	rs45517399
HLI	rs45517399
Exac	rs45517399
Gnomad	rs45517399
Varsome	rs45517399
LitVar	rs45517399
Map	rs45517399
PheGenI	rs45517399
Biobank	rs45517399
1000 genomes	rs45517399
hgdp	rs45517399
ensembl	rs45517399
geneview	rs45517399
scholar	rs45517399
google	rs45517399
pharmgkb	rs45517399
gwascentral	rs45517399
openSNP	rs45517399
23andMe	rs45517399
SNPshot	rs45517399
SNPdbe	rs45517399
MSV3d	rs45517399
GWAS Ctlg	rs45517399

Max Magnitude

6.3

ClinVar
Risk	rs45517399(A;A) rs45517399(C;C) rs45517399(T;T)
Alt	rs45517399(A;A) rs45517399(C;C) rs45517399(T;T)
Reference	Rs45517399(G;G)
Significance	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.2138141G>A; NC_000016.9:g.2138141G>C; NC_000016.9:g.2138141G>T
CLNSRC	Tuberous sclerosis database (TSC2)
CLNACC	RCV000042685.2, RCV000201137.1, RCV000485999.1, RCV000042686.2, RCV000042687.2, RCV000441636.1,