rs11203289

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	1	Now considered benign; formerly associated with Cowden Syndrome
(G;G)	1	Now considered benign; formerly associated with Cowden Syndrome

Reference

GRCh38 38.1/141

Chromosome

1

Position

17054012

Gene

SDHB

is a	snp
is	mentioned by
dbSNP	rs11203289
dbSNP (classic)	rs11203289
ClinGen	rs11203289
ebi	rs11203289
HLI	rs11203289
Exac	rs11203289
Gnomad	rs11203289
Varsome	rs11203289
LitVar	rs11203289
Map	rs11203289
PheGenI	rs11203289
Biobank	rs11203289
1000 genomes	rs11203289
hgdp	rs11203289
ensembl	rs11203289
geneview	rs11203289
scholar	rs11203289
google	rs11203289
pharmgkb	rs11203289
gwascentral	rs11203289
openSNP	rs11203289
23andMe	rs11203289
SNPshot	rs11203289
SNPdbe	rs11203289
MSV3d	rs11203289
GWAS Ctlg	rs11203289

GMAF

0.008724

Max Magnitude

1

OMIM	185470
Desc
Variant	0014
Related	also

ClinVar
Risk	Rs11203289(G;G)
Alt	Rs11203289(G;G)
Reference	Rs11203289(C;C)
Significance	Pathogenic
Disease	Cowden syndrome 2 not provided not specified Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Paraganglioma and gastric stromal sarcoma
Variation	info
Gene	SDHB
CLNDBN	Cowden syndrome 2 not provided not specified Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Paraganglioma and gastric stromal sarcoma
Reversed	1
HGVS	NC_000001.10:g.17380507G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013632.20, RCV000034690.1, RCV000121999.3, RCV000128921.2, RCV000204871.3, RCV000275977.1, RCV000368190.1,