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rs11214077

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38 38.1/141
Chromosome11
Position112087953
GeneSDHD, TIMM8B
is asnp
is mentioned by
dbSNPrs11214077
ebirs11214077
HLIrs11214077
Exacrs11214077
Varsomers11214077
Maprs11214077
PheGenIrs11214077
hapmaprs11214077
1000 genomesrs11214077
hgdprs11214077
ensemblrs11214077
gopubmedrs11214077
geneviewrs11214077
scholarrs11214077
googlers11214077
pharmgkbrs11214077
gwascentralrs11214077
openSNPrs11214077
23andMers11214077
23andMe allrs11214077
SNP Nexus

SNPshotrs11214077
SNPdbers11214077
MSV3drs11214077
GWAS Ctlgrs11214077
GMAF0.009183
Max Magnitude1

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.

OMIM602690
Desc
Variant0019
Relatedalso


ClinVar
Risk rs11214077(G;G)
Alt rs11214077(G;G)
Reference rs11214077(A;A)
Significance Pathogenic
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
CLNACC RCV000007318.5, RCV000023207.5, RCV000023208.7, RCV000034696.1, RCV000122007.1, RCV000129149.2, RCV000144513.3, RCV000204331.2, RCV000238643.1,