rs45472701

Orientation

plus

Stabilized

plus

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

Make rs45472701(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

2088236

Gene	PKD1, TSC2

is a	snp
is	mentioned by
dbSNP	rs45472701
dbSNP (classic)	rs45472701
ClinGen	rs45472701
ebi	rs45472701
HLI	rs45472701
Exac	rs45472701
Gnomad	rs45472701
Varsome	rs45472701
LitVar	rs45472701
Map	rs45472701
PheGenI	rs45472701
Biobank	rs45472701
1000 genomes	rs45472701
hgdp	rs45472701
ensembl	rs45472701
geneview	rs45472701
scholar	rs45472701
google	rs45472701
pharmgkb	rs45472701
gwascentral	rs45472701
openSNP	rs45472701
23andMe	rs45472701
SNPshot	rs45472701
SNPdbe	rs45472701
MSV3d	rs45472701
GWAS Ctlg	rs45472701

Max Magnitude

6.3

ClinVar
Risk	rs45472701(T;T)
Alt	rs45472701(T;T)
Reference	Rs45472701(C;C)
Significance	Pathogenic
Disease	Tuberous sclerosis syndrome Tuberous sclerosis 2
Variation	info
Gene	TSC2 PKD1
CLNDBN	Tuberous sclerosis syndrome Tuberous sclerosis 2
Reversed	0
HGVS	NC_000016.9:g.2138237C>T
CLNSRC	Tuberous sclerosis database (TSC2)
CLNACC	RCV000043217.2, RCV000201008.1,