rs137854225

plus

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

Make rs137854225(-;-)

Make rs137854225(-;CATCAAGCGGCTCCGCCA)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2088304

Gene	PKD1, TSC2

is a	snp
is	mentioned by
dbSNP	rs137854225
dbSNP (classic)	rs137854225
ClinGen	rs137854225
ebi	rs137854225
HLI	rs137854225
Exac	rs137854225
Gnomad	rs137854225
Varsome	rs137854225
LitVar	rs137854225
Map	rs137854225
PheGenI	rs137854225
Biobank	rs137854225
1000 genomes	rs137854225
hgdp	rs137854225
ensembl	rs137854225
geneview	rs137854225
scholar	rs137854225
google	rs137854225
pharmgkb	rs137854225
gwascentral	rs137854225
openSNP	rs137854225
23andMe	rs137854225
SNPshot	rs137854225
SNPdbe	rs137854225
MSV3d	rs137854225
GWAS Ctlg	rs137854225

Status

Merged into rs137854218

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs137854225(CGGCTCCGCCACATCAAG;CGGCTCCGCCACATCAAG)
Significance	Pathogenic
Disease	Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis
Variation	info
Gene	TSC2 PKD1
CLNDBN	Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis
Reversed	0
HGVS	NC_000016.9:g.2138305_2138322del18
CLNSRC	OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC	RCV000013211.25, RCV000043162.3, RCV000055053.1,

[PMID 11112] Acid mucopolysaccharides in fibroblast cultures. 2. 35S-sulfate incorporation kinetics in dependence on pH-value and cell density.

[PMID 11112665 ] Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

[PMID 12136241] SNP identification, haplotype analysis, and parental origin of mutations in TSC2.