rs45517349

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs45517349(G;T)

Make rs45517349(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2084966

Gene

TSC2

is a	snp
is	mentioned by
dbSNP	rs45517349
dbSNP (classic)	rs45517349
ClinGen	rs45517349
ebi	rs45517349
HLI	rs45517349
Exac	rs45517349
Gnomad	rs45517349
Varsome	rs45517349
LitVar	rs45517349
Map	rs45517349
PheGenI	rs45517349
Biobank	rs45517349
1000 genomes	rs45517349
hgdp	rs45517349
ensembl	rs45517349
geneview	rs45517349
scholar	rs45517349
google	rs45517349
pharmgkb	rs45517349
gwascentral	rs45517349
openSNP	rs45517349
23andMe	rs45517349
SNPshot	rs45517349
SNPdbe	rs45517349
MSV3d	rs45517349
GWAS Ctlg	rs45517349

Max Magnitude

0

OMIM	191092
Desc
Variant	0011
Related	also

ClinVar
Risk	rs45517349(T;T)
Alt	rs45517349(T;T)
Reference	Rs45517349(G;G)
Significance	Untested
Disease	Tuberous sclerosis syndrome
Variation	info
Gene	TSC2
CLNDBN	Tuberous sclerosis syndrome
Reversed	0
HGVS	NC_000016.9:g.2134967G>T
CLNSRC	Tuberous sclerosis database (TSC2)
CLNACC	RCV000042758.2,

[PMID 17304050] Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.