rs118203707

Orientation

minus

Stabilized

minus

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

Make rs118203707(-;-)

Make rs118203707(-;AAAC)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

132900829

Gene

TSC1

is a	snp
is	mentioned by
dbSNP	rs118203707
dbSNP (classic)	rs118203707
ClinGen	rs118203707
ebi	rs118203707
HLI	rs118203707
Exac	rs118203707
Gnomad	rs118203707
Varsome	rs118203707
LitVar	rs118203707
Map	rs118203707
PheGenI	rs118203707
Biobank	rs118203707
1000 genomes	rs118203707
hgdp	rs118203707
ensembl	rs118203707
geneview	rs118203707
scholar	rs118203707
google	rs118203707
pharmgkb	rs118203707
gwascentral	rs118203707
openSNP	rs118203707
23andMe	rs118203707
SNPshot	rs118203707
SNPdbe	rs118203707
MSV3d	rs118203707
GWAS Ctlg	rs118203707

Merged from

Rs118203708

Max Magnitude

6.3

ClinVar
Risk	Rs118203707(AACA;AACA) rs118203707(-;-)
Alt	Rs118203707(AACA;AACA) rs118203707(-;-)
Reference	Rs118203707(AAAC;AAAC)
Significance	Pathogenic
Disease	Tuberous sclerosis syndrome Tuberous sclerosis 1 Cortical tubers Multiple renal cysts Seizures
Variation	info
Gene	TSC1
CLNDBN	Tuberous sclerosis syndrome Tuberous sclerosis 1 Cortical tubers Multiple renal cysts Seizures
Reversed	1
HGVS	NC_000009.11:g.135776215_135776218delTGTT
CLNSRC	Tuberous sclerosis database (TSC1)
CLNACC	RCV000042222.3, RCV000201118.1, RCV000415443.1,