rs137854317

Orientation

plus

Stabilized

plus

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

Make rs137854317(-;-)

Make rs137854317(-;G)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

2088326

Gene	PKD1, TSC2

is a	snp
is	mentioned by
dbSNP	rs137854317
dbSNP (classic)	rs137854317
ClinGen	rs137854317
ebi	rs137854317
HLI	rs137854317
Exac	rs137854317
Gnomad	rs137854317
Varsome	rs137854317
LitVar	rs137854317
Map	rs137854317
PheGenI	rs137854317
Biobank	rs137854317
1000 genomes	rs137854317
hgdp	rs137854317
ensembl	rs137854317
geneview	rs137854317
scholar	rs137854317
google	rs137854317
pharmgkb	rs137854317
gwascentral	rs137854317
openSNP	rs137854317
23andMe	rs137854317
SNPshot	rs137854317
SNPdbe	rs137854317
MSV3d	rs137854317
GWAS Ctlg	rs137854317

Max Magnitude

0

ClinVar
Risk	rs137854317(-;-)
Alt	rs137854317(-;-)
Reference	Rs137854317(G;G)
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.2138327delG
CLNSRC	Tuberous sclerosis database (TSC2)
CLNACC	RCV000042677.2, RCV000201172.1,