rs80338842

Orientation

plus

Stabilized

plus

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

Make rs80338842(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112086910

Gene	SDHD, TIMM8B

is a	snp
is	mentioned by
dbSNP	rs80338842
dbSNP (classic)	rs80338842
ClinGen	rs80338842
ebi	rs80338842
HLI	rs80338842
Exac	rs80338842
Gnomad	rs80338842
Varsome	rs80338842
LitVar	rs80338842
Map	rs80338842
PheGenI	rs80338842
Biobank	rs80338842
1000 genomes	rs80338842
hgdp	rs80338842
ensembl	rs80338842
geneview	rs80338842
scholar	rs80338842
google	rs80338842
pharmgkb	rs80338842
gwascentral	rs80338842
openSNP	rs80338842
23andMe	rs80338842
SNPshot	rs80338842
SNPdbe	rs80338842
MSV3d	rs80338842
GWAS Ctlg	rs80338842

Max Magnitude

6.2

OMIM	602690
Desc
Variant	0015
Related	also

ClinVar
Risk	rs80338842(C;C)
Alt	rs80338842(C;C)
Reference	Rs80338842(G;G)
Significance	Pathogenic
Disease	Paragangliomas 1 Hereditary Paraganglioma-Pheochromocytoma Syndromes Hereditary cancer-predisposing syndrome
Variation	info
Gene	TIMM8B SDHD
CLNDBN	Paragangliomas 1 Hereditary Paraganglioma-Pheochromocytoma Syndromes Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000011.9:g.111957634G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007315.2, RCV000020522.1, RCV000492533.1,

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

[PMID 12782822] Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?