rs118203387

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6.3	Tuberous Sclerosis Complex
(G;G)	0	common in clinvar

Make rs118203387(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

132923365

Gene

TSC1

is a	snp
is	mentioned by
dbSNP	rs118203387
dbSNP (classic)	rs118203387
ClinGen	rs118203387
ebi	rs118203387
HLI	rs118203387
Exac	rs118203387
Gnomad	rs118203387
Varsome	rs118203387
LitVar	rs118203387
Map	rs118203387
PheGenI	rs118203387
Biobank	rs118203387
1000 genomes	rs118203387
hgdp	rs118203387
ensembl	rs118203387
geneview	rs118203387
scholar	rs118203387
google	rs118203387
pharmgkb	rs118203387
gwascentral	rs118203387
openSNP	rs118203387
23andMe	rs118203387
SNPshot	rs118203387
SNPdbe	rs118203387
MSV3d	rs118203387
GWAS Ctlg	rs118203387

Max Magnitude

6.3

ClinVar
Risk	rs118203387(A;A)
Alt	rs118203387(A;A)
Reference	Rs118203387(G;G)
Significance	Pathogenic
Disease	Lymphangiomyomatosis Tuberous sclerosis syndrome not provided
Variation	info
Gene	TSC1
CLNDBN	Lymphangiomyomatosis Tuberous sclerosis syndrome not provided
Reversed	1
HGVS	NC_000009.11:g.135798752C>T
CLNSRC	Tuberous sclerosis database (TSC1)
CLNACC	RCV000042297.2, RCV000189835.1,