Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338844(C;T)
Make rs80338844(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position112088939
GeneSDHD
is asnp
is mentioned by
dbSNPrs80338844
ebirs80338844
HLIrs80338844
Exacrs80338844
Varsomers80338844
Maprs80338844
PheGenIrs80338844
hapmaprs80338844
1000 genomesrs80338844
hgdprs80338844
ensemblrs80338844
gopubmedrs80338844
geneviewrs80338844
scholarrs80338844
googlers80338844
pharmgkbrs80338844
gwascentralrs80338844
openSNPrs80338844
23andMers80338844
23andMe allrs80338844
SNP Nexus

SNPshotrs80338844
SNPdbers80338844
MSV3drs80338844
GWAS Ctlgrs80338844
Max Magnitude0
OMIM602690
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338844(T;T)
Alt rs80338844(T;T)
Reference rs80338844(C;C)
Significance Pathogenic
Disease Paragangliomas 1 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes Paragangliomas 1 with sensorineural hearing loss Hereditary cancer-predisposing syndrome not provided Paraganglioma and gastric stromal sarcoma
Variation info
Gene SDHD
CLNDBN Paragangliomas 1 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes Paragangliomas 1 with sensorineural hearing loss Hereditary cancer-predisposing syndrome not provided Paraganglioma and gastric stromal sarcoma
Reversed 0
HGVS NC_000011.9:g.111959663C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007303.2, RCV000007304.4, RCV000020519.1, RCV000023206.2, RCV000162448.1, RCV000216073.1, RCV000234438.1,


[PMID 11391] The estimation of pancreatic lipase--a brief review.


[PMID 10657297] Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.


[PMID 11343322] Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.


[PMID 11391796] Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.


[PMID 11897817OA-icon.png] Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.


[PMID 12811540] Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.