rs104894308

Orientation

plus

Stabilized

plus

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

Make rs104894308(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112087933

Gene	SDHD, TIMM8B

is a	snp
is	mentioned by
dbSNP	rs104894308
dbSNP (classic)	rs104894308
ClinGen	rs104894308
ebi	rs104894308
HLI	rs104894308
Exac	rs104894308
Gnomad	rs104894308
Varsome	rs104894308
LitVar	rs104894308
Map	rs104894308
PheGenI	rs104894308
Biobank	rs104894308
1000 genomes	rs104894308
hgdp	rs104894308
ensembl	rs104894308
geneview	rs104894308
scholar	rs104894308
google	rs104894308
pharmgkb	rs104894308
gwascentral	rs104894308
openSNP	rs104894308
23andMe	rs104894308
SNPshot	rs104894308
SNPdbe	rs104894308
MSV3d	rs104894308
GWAS Ctlg	rs104894308

Max Magnitude

6.2

OMIM	602690
Desc
Variant	0023
Related	also

ClinVar
Risk	rs104894308(A;A)
Alt	rs104894308(A;A)
Reference	Rs104894308(G;G)
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.111958657G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007322.2, RCV000222413.1,