rs137854337

Orientation

plus

Stabilized

plus

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

Make rs137854337(TACT;TACT)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2071896

Gene

TSC2

is a	snp
is	mentioned by
dbSNP	rs137854337
dbSNP (classic)	rs137854337
ClinGen	rs137854337
ebi	rs137854337
HLI	rs137854337
Exac	rs137854337
Gnomad	rs137854337
Varsome	rs137854337
LitVar	rs137854337
Map	rs137854337
PheGenI	rs137854337
Biobank	rs137854337
1000 genomes	rs137854337
hgdp	rs137854337
ensembl	rs137854337
geneview	rs137854337
scholar	rs137854337
google	rs137854337
pharmgkb	rs137854337
gwascentral	rs137854337
openSNP	rs137854337
23andMe	rs137854337
SNPshot	rs137854337
SNPdbe	rs137854337
MSV3d	rs137854337
GWAS Ctlg	rs137854337

Max Magnitude

6.3

ClinVar
Risk	rs137854337(TACT;TACT)
Alt	rs137854337(TACT;TACT)
Reference	Rs137854337(-;-)
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.2121894_2121897dupTACT
CLNSRC	OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC	RCV000013203.23, RCV000043367.2,

[PMID 9361032] Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.