rs45517411

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs45517411(A;A)

Make rs45517411(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

2088286

Gene	PKD1, TSC2

is a	snp
is	mentioned by
dbSNP	rs45517411
dbSNP (classic)	rs45517411
ClinGen	rs45517411
ebi	rs45517411
HLI	rs45517411
Exac	rs45517411
Gnomad	rs45517411
Varsome	rs45517411
LitVar	rs45517411
Map	rs45517411
PheGenI	rs45517411
Biobank	rs45517411
1000 genomes	rs45517411
hgdp	rs45517411
ensembl	rs45517411
geneview	rs45517411
scholar	rs45517411
google	rs45517411
pharmgkb	rs45517411
gwascentral	rs45517411
openSNP	rs45517411
23andMe	rs45517411
SNPshot	rs45517411
SNPdbe	rs45517411
MSV3d	rs45517411
GWAS Ctlg	rs45517411

Max Magnitude

0

ClinVar
Risk	rs45517411(A;A)
Alt	rs45517411(A;A)
Reference	Rs45517411(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.2138287G>A
CLNSRC	Tuberous sclerosis database (TSC2)
CLNACC	RCV000042623.2, RCV000493371.1,