rs45479192

Orientation

plus

Stabilized

plus

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

Make rs45479192(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

2086292

Gene

TSC2

is a	snp
is	mentioned by
dbSNP	rs45479192
dbSNP (classic)	rs45479192
ClinGen	rs45479192
ebi	rs45479192
HLI	rs45479192
Exac	rs45479192
Gnomad	rs45479192
Varsome	rs45479192
LitVar	rs45479192
Map	rs45479192
PheGenI	rs45479192
Biobank	rs45479192
1000 genomes	rs45479192
hgdp	rs45479192
ensembl	rs45479192
geneview	rs45479192
scholar	rs45479192
google	rs45479192
pharmgkb	rs45479192
gwascentral	rs45479192
openSNP	rs45479192
23andMe	rs45479192
SNPshot	rs45479192
SNPdbe	rs45479192
MSV3d	rs45479192
GWAS Ctlg	rs45479192

Max Magnitude

6.3

ClinVar
Risk	rs45479192(T;T)
Alt	rs45479192(T;T)
Reference	Rs45479192(C;C)
Significance	Pathogenic
Disease	Tuberous sclerosis syndrome Tuberous sclerosis 2
Variation	info
Gene	TSC2
CLNDBN	Tuberous sclerosis syndrome Tuberous sclerosis 2
Reversed	0
HGVS	NC_000016.9:g.2136293C>T
CLNSRC	Tuberous sclerosis database (TSC2)
CLNACC	RCV000043363.2, RCV000201115.1,