rs781764920

Orientation

plus

Stabilized

plus

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

Make rs781764920(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

224432

Gene

SDHA

is a	snp
is	mentioned by
dbSNP	rs781764920
dbSNP (classic)	rs781764920
ClinGen	rs781764920
ebi	rs781764920
HLI	rs781764920
Exac	rs781764920
Gnomad	rs781764920
Varsome	rs781764920
LitVar	rs781764920
Map	rs781764920
PheGenI	rs781764920
Biobank	rs781764920
1000 genomes	rs781764920
hgdp	rs781764920
ensembl	rs781764920
geneview	rs781764920
scholar	rs781764920
google	rs781764920
pharmgkb	rs781764920
gwascentral	rs781764920
openSNP	rs781764920
23andMe	rs781764920
SNPshot	rs781764920
SNPdbe	rs781764920
MSV3d	rs781764920
GWAS Ctlg	rs781764920

Max Magnitude

6.2

ClinVar
Risk	rs781764920(T;T)
Alt	rs781764920(T;T)
Reference	Rs781764920(C;C)
Significance	Pathogenic
Disease	Paragangliomas 5 Mitochondrial complex II deficiency not provided
Variation	info
Gene	SDHA
CLNDBN	Paragangliomas 5 Mitochondrial complex II deficiency not provided
Reversed	0
HGVS	NC_000005.9:g.224547C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000191050.3, RCV000230857.1, RCV000481058.1,