rs118203478

Orientation

minus

Stabilized

minus

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

Make rs118203478(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

132911492

Gene

TSC1

is a	snp
is	mentioned by
dbSNP	rs118203478
dbSNP (classic)	rs118203478
ClinGen	rs118203478
ebi	rs118203478
HLI	rs118203478
Exac	rs118203478
Gnomad	rs118203478
Varsome	rs118203478
LitVar	rs118203478
Map	rs118203478
PheGenI	rs118203478
Biobank	rs118203478
1000 genomes	rs118203478
hgdp	rs118203478
ensembl	rs118203478
geneview	rs118203478
scholar	rs118203478
google	rs118203478
pharmgkb	rs118203478
gwascentral	rs118203478
openSNP	rs118203478
23andMe	rs118203478
SNPshot	rs118203478
SNPdbe	rs118203478
MSV3d	rs118203478
GWAS Ctlg	rs118203478

Max Magnitude

6.3

ClinVar
Risk	rs118203478(TT;TT) rs118203478(T;T)
Alt	rs118203478(TT;TT) rs118203478(T;T)
Reference	Rs118203478(-;-)
Significance	Pathogenic
Disease	not provided Tuberous sclerosis syndrome Tuberous sclerosis 1 Cortical dysplasia Renal cortical cysts Renal insufficiency Hereditary cancer-predisposing syndrome
Variation	info
Gene	TSC1
CLNDBN	not provided Tuberous sclerosis syndrome Tuberous sclerosis 1 Cortical dysplasia Renal cortical cysts Renal insufficiency Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000009.11:g.135786879_135786880insAA; NC_000009.11:g.135786880dupA
CLNSRC	Tuberous sclerosis database (TSC1)
CLNACC	RCV000481025.1, RCV000042390.2, RCV000189866.2, RCV000201139.1, RCV000414909.1, RCV000491374.1,