rs137854083

Orientation

plus

Stabilized

plus

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

Make rs137854083(-;-)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2085302

Gene

TSC2

is a	snp
is	mentioned by
dbSNP	rs137854083
dbSNP (classic)	rs137854083
ClinGen	rs137854083
ebi	rs137854083
HLI	rs137854083
Exac	rs137854083
Gnomad	rs137854083
Varsome	rs137854083
LitVar	rs137854083
Map	rs137854083
PheGenI	rs137854083
Biobank	rs137854083
1000 genomes	rs137854083
hgdp	rs137854083
ensembl	rs137854083
geneview	rs137854083
scholar	rs137854083
google	rs137854083
pharmgkb	rs137854083
gwascentral	rs137854083
openSNP	rs137854083
23andMe	rs137854083
SNPshot	rs137854083
SNPdbe	rs137854083
MSV3d	rs137854083
GWAS Ctlg	rs137854083

Max Magnitude

6.3

ClinVar
Risk	rs137854083(-;-)
Alt	rs137854083(-;-)
Reference	Rs137854083(C;C)
Significance	Pathogenic
Disease	Tuberous sclerosis 2 Tuberous sclerosis syndrome
Variation	info
Gene	TSC2
CLNDBN	Tuberous sclerosis 2 Tuberous sclerosis syndrome
Reversed	0
HGVS	NC_000016.9:g.2135303delC
CLNSRC	OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC	RCV000013200.23, RCV000042568.2,

[PMID 8634701] Mutation analysis of the TSC2 gene in an African-American family.