rs137854175

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;ACAA)	6.3	Tuberous Sclerosis Complex
(ACAA;ACAA)	0	common in clinvar
(CAAA;CAAA)	0	common in clinvar
(I;I)	0	common genotype

Make rs137854175(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

2085001

Gene

TSC2

is a	snp
is	mentioned by
dbSNP	rs137854175
dbSNP (classic)	rs137854175
ClinGen	rs137854175
ebi	rs137854175
HLI	rs137854175
Exac	rs137854175
Gnomad	rs137854175
Varsome	rs137854175
LitVar	rs137854175
Map	rs137854175
PheGenI	rs137854175
Biobank	rs137854175
1000 genomes	rs137854175
hgdp	rs137854175
ensembl	rs137854175
geneview	rs137854175
scholar	rs137854175
google	rs137854175
pharmgkb	rs137854175
gwascentral	rs137854175
openSNP	rs137854175
23andMe	rs137854175
SNPshot	rs137854175
SNPdbe	rs137854175
MSV3d	rs137854175
GWAS Ctlg	rs137854175

Merged from

Rs137854193

Max Magnitude

6.3

ClinVar
Risk	rs137854175(-;-) Rs137854175(CAAA;CAAA)
Alt	rs137854175(-;-) Rs137854175(CAAA;CAAA)
Reference	Rs137854175(ACAA;ACAA)
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.2135002_2135005delACAA
CLNSRC	Tuberous sclerosis database (TSC2)
CLNACC	RCV000042563.3, RCV000201030.2, RCV000360616.1,