rs137854218

Orientation

plus

Stabilized

plus

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

Make rs137854218(-;-)

Make rs137854218(-;CGGCTCCGCCACATCAAG)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

2088293

Gene	PKD1, TSC2

is a	snp
is	mentioned by
dbSNP	rs137854218
dbSNP (classic)	rs137854218
ClinGen	rs137854218
ebi	rs137854218
HLI	rs137854218
Exac	rs137854218
Gnomad	rs137854218
Varsome	rs137854218
LitVar	rs137854218
Map	rs137854218
PheGenI	rs137854218
Biobank	rs137854218
1000 genomes	rs137854218
hgdp	rs137854218
ensembl	rs137854218
geneview	rs137854218
scholar	rs137854218
google	rs137854218
pharmgkb	rs137854218
gwascentral	rs137854218
openSNP	rs137854218
23andMe	rs137854218
SNPshot	rs137854218
SNPdbe	rs137854218
MSV3d	rs137854218
GWAS Ctlg	rs137854218

Merged from

Rs137854225

Max Magnitude

0

ClinVar
Risk	rs137854218(-;-) rs137854218(CATCAAGCGGCTCCGCCA;CATCAAGCGGCTCCGCCA)
Alt	rs137854218(-;-) rs137854218(CATCAAGCGGCTCCGCCA;CATCAAGCGGCTCCGCCA)
Reference	Rs137854218(CGGCTCCGCCACATCAAG;CGGCTCCGCCACATCAAG)
Significance	Pathogenic
Disease	Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	TSC2 PKD1
CLNDBN	Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000016.9:g.2138305_2138322del18
CLNSRC	OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC	RCV000013211.25, RCV000043162.3, RCV000055053.1, RCV000483802.1, RCV000491359.1,