rs137854219

Orientation

plus

Stabilized

plus

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

Make rs137854219(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

16

Position

2088285

Gene	PKD1, TSC2

is a	snp
is	mentioned by
dbSNP	rs137854219
dbSNP (classic)	rs137854219
ClinGen	rs137854219
ebi	rs137854219
HLI	rs137854219
Exac	rs137854219
Gnomad	rs137854219
Varsome	rs137854219
LitVar	rs137854219
Map	rs137854219
PheGenI	rs137854219
Biobank	rs137854219
1000 genomes	rs137854219
hgdp	rs137854219
ensembl	rs137854219
geneview	rs137854219
scholar	rs137854219
google	rs137854219
pharmgkb	rs137854219
gwascentral	rs137854219
openSNP	rs137854219
23andMe	rs137854219
SNPshot	rs137854219
SNPdbe	rs137854219
MSV3d	rs137854219
GWAS Ctlg	rs137854219

Max Magnitude

6.3

ClinVar
Risk	rs137854219(A;A)
Alt	rs137854219(A;A)
Reference	Rs137854219(G;G)
Significance	Pathogenic
Disease	Tuberous sclerosis syndrome not provided
Variation	info
Gene	TSC2 PKD1
CLNDBN	Tuberous sclerosis syndrome not provided
Reversed	0
HGVS	NC_000016.9:g.2138286G>A
CLNSRC	Tuberous sclerosis database (TSC2)
CLNACC	RCV000042622.2, RCV000388680.1,