rs80338844

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.2	Hereditary PGL/PCC Syndrome

Make rs80338844(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112088939

Gene

SDHD

is a	snp
is	mentioned by
dbSNP	rs80338844
dbSNP (classic)	rs80338844
ClinGen	rs80338844
ebi	rs80338844
HLI	rs80338844
Exac	rs80338844
Gnomad	rs80338844
Varsome	rs80338844
LitVar	rs80338844
Map	rs80338844
PheGenI	rs80338844
Biobank	rs80338844
1000 genomes	rs80338844
hgdp	rs80338844
ensembl	rs80338844
geneview	rs80338844
scholar	rs80338844
google	rs80338844
pharmgkb	rs80338844
gwascentral	rs80338844
openSNP	rs80338844
23andMe	rs80338844
SNPshot	rs80338844
SNPdbe	rs80338844
MSV3d	rs80338844
GWAS Ctlg	rs80338844

Max Magnitude

6.2

OMIM	602690
Desc
Variant	0003
Related	also

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
Variation	info
Gene	SDHD
CLNDBN	Paragangliomas 1 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes Paragangliomas 1 with sensorineural hearing loss Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.111959663C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007303.2, RCV000007304.4, RCV000020519.1, RCV000023206.2, RCV000162448.3, RCV000216073.2, RCV000234438.2,

[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 11897817] 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.