rs104894307

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in complete genomics
(A;G)	6.2	Hereditary PGL/PCC Syndrome
(A;T)	6.2	Hereditary PGL/PCC Syndrome

Make rs104894307(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112086908

Gene	SDHD, TIMM8B

is a	snp
is	mentioned by
dbSNP	rs104894307
dbSNP (classic)	rs104894307
ClinGen	rs104894307
ebi	rs104894307
HLI	rs104894307
Exac	rs104894307
Gnomad	rs104894307
Varsome	rs104894307
LitVar	rs104894307
Map	rs104894307
PheGenI	rs104894307
Biobank	rs104894307
1000 genomes	rs104894307
hgdp	rs104894307
ensembl	rs104894307
geneview	rs104894307
scholar	rs104894307
google	rs104894307
pharmgkb	rs104894307
gwascentral	rs104894307
openSNP	rs104894307
23andMe	rs104894307
SNPshot	rs104894307
SNPdbe	rs104894307
MSV3d	rs104894307
GWAS Ctlg	rs104894307

Max Magnitude

6.2

OMIM	602690
Desc
Variant	0021
Related	also

ClinVar
Risk	rs104894307(G;G) rs104894307(T;T)
Alt	rs104894307(G;G) rs104894307(T;T)
Reference	Rs104894307(A;A)
Significance	Pathogenic
Disease	Carotid body paraganglioma Paragangliomas 1 Pheochromocytoma not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	TIMM8B SDHD
CLNDBN	Carotid body paraganglioma Paragangliomas 1 Pheochromocytoma not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000011.9:g.111957632A>G; NC_000011.9:g.111957632A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007320.4, RCV000471388.1, RCV000485004.1, RCV000492287.1,