rs104894309

Orientation

plus

Stabilized

plus

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

Make rs104894309(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112086940

Gene	SDHD, TIMM8B

is a	snp
is	mentioned by
dbSNP	rs104894309
dbSNP (classic)	rs104894309
ClinGen	rs104894309
ebi	rs104894309
HLI	rs104894309
Exac	rs104894309
Gnomad	rs104894309
Varsome	rs104894309
LitVar	rs104894309
Map	rs104894309
PheGenI	rs104894309
Biobank	rs104894309
1000 genomes	rs104894309
hgdp	rs104894309
ensembl	rs104894309
geneview	rs104894309
scholar	rs104894309
google	rs104894309
pharmgkb	rs104894309
gwascentral	rs104894309
openSNP	rs104894309
23andMe	rs104894309
SNPshot	rs104894309
SNPdbe	rs104894309
MSV3d	rs104894309
GWAS Ctlg	rs104894309

Max Magnitude

6.2

OMIM	602690
Desc
Variant	0025
Related	also

ClinVar
Risk	rs104894309(A;A) rs104894309(T;T)
Alt	rs104894309(A;A) rs104894309(T;T)
Reference	Rs104894309(C;C)
Significance	Pathogenic
Disease	Pheochromocytoma Hereditary cancer-predisposing syndrome
Variation	info
Gene	TIMM8B SDHD
CLNDBN	Pheochromocytoma Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000011.9:g.111957664C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007324.2, RCV000221327.1,