rs786205436

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a mitochondrial cardiomyopathy mutation

Make rs786205436(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

112088972

Gene

SDHD

is a	snp
is	mentioned by
dbSNP	rs786205436
dbSNP (classic)	rs786205436
ClinGen	rs786205436
ebi	rs786205436
HLI	rs786205436
Exac	rs786205436
Gnomad	rs786205436
Varsome	rs786205436
LitVar	rs786205436
Map	rs786205436
PheGenI	rs786205436
Biobank	rs786205436
1000 genomes	rs786205436
hgdp	rs786205436
ensembl	rs786205436
geneview	rs786205436
scholar	rs786205436
google	rs786205436
pharmgkb	rs786205436
gwascentral	rs786205436
openSNP	rs786205436
23andMe	rs786205436
SNPshot	rs786205436
SNPdbe	rs786205436
MSV3d	rs786205436
GWAS Ctlg	rs786205436

Max Magnitude

3

aka c.275A>G (p.Asp92Gly)

see OMIM 602690.0031

ClinVar
Risk	rs786205436(G;G) rs786205436(T;T)
Alt	rs786205436(G;G) rs786205436(T;T)
Reference	Rs786205436(A;A)
Significance	Pathogenic
Disease	Fatal infantile mitochondrial cardiomyopathy Mitochondrial complex II deficiency not provided
Variation	info
Gene	SDHD
CLNDBN	Fatal infantile mitochondrial cardiomyopathy Mitochondrial complex II deficiency not provided
Reversed	0
HGVS	NC_000011.9:g.111959696A>G; NC_000011.9:g.111959696A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000171136.1, RCV000186596.2, RCV000479419.1,