rs11214077

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	1	classified as benign variant in ClinVar
(G;G)	1	most likely a benign genotype according to ClinVar (although rare)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112087953

Gene	SDHD, TIMM8B

is a	snp
is	mentioned by
dbSNP	rs11214077
dbSNP (classic)	rs11214077
ClinGen	rs11214077
ebi	rs11214077
HLI	rs11214077
Exac	rs11214077
Gnomad	rs11214077
Varsome	rs11214077
LitVar	rs11214077
Map	rs11214077
PheGenI	rs11214077
Biobank	rs11214077
1000 genomes	rs11214077
hgdp	rs11214077
ensembl	rs11214077
geneview	rs11214077
scholar	rs11214077
google	rs11214077
pharmgkb	rs11214077
gwascentral	rs11214077
openSNP	rs11214077
23andMe	rs11214077
SNPshot	rs11214077
SNPdbe	rs11214077
MSV3d	rs11214077
GWAS Ctlg	rs11214077

GMAF

0.009183

Max Magnitude

1

aka c.149A>G, p.His50Arg or H50R

Classified as benign in ClinVar. Somewhat rare (~0.5%) allele frequency, but nowhere near as rare as the 1:100,000 incidence of the rare cancers cited in the OMIM entry for this variant.

OMIM	602690
Desc
Variant	0019
Related	also

ClinVar
Risk	Rs11214077(G;G)
Alt	Rs11214077(G;G)
Reference	Rs11214077(A;A)
Significance	Other
Disease	Carcinoid tumor of intestine Pheochromocytoma Merkel cell carcinoma not provided not specified Hereditary cancer-predisposing syndrome Cowden syndrome 3 Paraganglioma and gastric stromal sarcoma Paragangliomas 1
Variation	info
Gene	TIMM8B SDHD
CLNDBN	Carcinoid tumor of intestine Pheochromocytoma Merkel cell carcinoma not provided not specified Hereditary cancer-predisposing syndrome Cowden syndrome 3 Paraganglioma and gastric stromal sarcoma Paragangliomas 1
Reversed	0
HGVS	NC_000011.9:g.111958677A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007318.5, RCV000023207.6, RCV000023208.7, RCV000034696.1, RCV000122007.2, RCV000129149.2, RCV000144513.3, RCV000204331.3, RCV000238643.1,