rs104894303

Orientation

plus

Stabilized

plus

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

Make rs104894303(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112087910

Gene	SDHD, TIMM8B

is a	snp
is	mentioned by
dbSNP	rs104894303
dbSNP (classic)	rs104894303
ClinGen	rs104894303
ebi	rs104894303
HLI	rs104894303
Exac	rs104894303
Gnomad	rs104894303
Varsome	rs104894303
LitVar	rs104894303
Map	rs104894303
PheGenI	rs104894303
Biobank	rs104894303
1000 genomes	rs104894303
hgdp	rs104894303
ensembl	rs104894303
geneview	rs104894303
scholar	rs104894303
google	rs104894303
pharmgkb	rs104894303
gwascentral	rs104894303
openSNP	rs104894303
23andMe	rs104894303
SNPshot	rs104894303
SNPdbe	rs104894303
MSV3d	rs104894303
GWAS Ctlg	rs104894303

Max Magnitude

6.2

OMIM	602690
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894303(T;T)
Alt	rs104894303(T;T)
Reference	Rs104894303(C;C)
Significance	Pathogenic
Disease	Paragangliomas 1 Hereditary cancer-predisposing syndrome
Variation	info
Gene	TIMM8B SDHD
CLNDBN	Paragangliomas 1 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000011.9:g.111958634C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007295.2, RCV000492417.1,