rs786205145

Orientation

plus

Stabilized

plus

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

Make rs786205145(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

224504

Gene

SDHA

is a	snp
is	mentioned by
dbSNP	rs786205145
dbSNP (classic)	rs786205145
ClinGen	rs786205145
ebi	rs786205145
HLI	rs786205145
Exac	rs786205145
Gnomad	rs786205145
Varsome	rs786205145
LitVar	rs786205145
Map	rs786205145
PheGenI	rs786205145
Biobank	rs786205145
1000 genomes	rs786205145
hgdp	rs786205145
ensembl	rs786205145
geneview	rs786205145
scholar	rs786205145
google	rs786205145
pharmgkb	rs786205145
gwascentral	rs786205145
openSNP	rs786205145
23andMe	rs786205145
SNPshot	rs786205145
SNPdbe	rs786205145
MSV3d	rs786205145
GWAS Ctlg	rs786205145

Max Magnitude

6.2

aka c.295C>T (p.His99Tyr)

ClinVar annotates this as pathogenic for Carney triad

ClinVar
Risk	rs786205145(T;T)
Alt	rs786205145(T;T)
Reference	Rs786205145(C;C)
Significance	Probable-Pathogenic
Disease	Carney triad
Variation	info
Gene	SDHA
CLNDBN	Carney triad
Reversed	0
HGVS	NC_000005.9:g.224619C>T
CLNSRC	National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development
CLNACC	RCV000170329.1,