rs104894305

Orientation

plus

Stabilized

plus

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

Make rs104894305(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112087899

Gene	SDHD, TIMM8B

is a	snp
is	mentioned by
dbSNP	rs104894305
dbSNP (classic)	rs104894305
ClinGen	rs104894305
ebi	rs104894305
HLI	rs104894305
Exac	rs104894305
Gnomad	rs104894305
Varsome	rs104894305
LitVar	rs104894305
Map	rs104894305
PheGenI	rs104894305
Biobank	rs104894305
1000 genomes	rs104894305
hgdp	rs104894305
ensembl	rs104894305
geneview	rs104894305
scholar	rs104894305
google	rs104894305
pharmgkb	rs104894305
gwascentral	rs104894305
openSNP	rs104894305
23andMe	rs104894305
SNPshot	rs104894305
SNPdbe	rs104894305
MSV3d	rs104894305
GWAS Ctlg	rs104894305

Max Magnitude

6.2

OMIM	602690
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894305(A;A)
Alt	rs104894305(A;A)
Reference	Rs104894305(C;C)
Significance	Pathogenic
Disease	Paragangliomas 1
Variation	info
Gene	TIMM8B SDHD
CLNDBN	Paragangliomas 1
Reversed	0
HGVS	NC_000011.9:g.111958623C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007310.2,