rs104894306

Orientation

plus

Stabilized

plus

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

Make rs104894306(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112087868

Gene	SDHD, TIMM8B

is a	snp
is	mentioned by
dbSNP	rs104894306
dbSNP (classic)	rs104894306
ClinGen	rs104894306
ebi	rs104894306
HLI	rs104894306
Exac	rs104894306
Gnomad	rs104894306
Varsome	rs104894306
LitVar	rs104894306
Map	rs104894306
PheGenI	rs104894306
Biobank	rs104894306
1000 genomes	rs104894306
hgdp	rs104894306
ensembl	rs104894306
geneview	rs104894306
scholar	rs104894306
google	rs104894306
pharmgkb	rs104894306
gwascentral	rs104894306
openSNP	rs104894306
23andMe	rs104894306
SNPshot	rs104894306
SNPdbe	rs104894306
MSV3d	rs104894306
GWAS Ctlg	rs104894306

Max Magnitude

6.2

OMIM	602690
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894306(T;T)
Alt	rs104894306(T;T)
Reference	Rs104894306(C;C)
Significance	Pathogenic
Disease	Paragangliomas 1 Pheochromocytoma Hereditary cancer-predisposing syndrome
Variation	info
Gene	TIMM8B SDHD
CLNDBN	Paragangliomas 1 Pheochromocytoma Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000011.9:g.111958592C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007312.2, RCV000193132.1, RCV000492341.1,