Rs1061517

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs1061517
PheGenI	rs1061517
nextbio	rs1061517
hapmap	rs1061517
1000 genomes	rs1061517
hgdp	rs1061517
ensembl	rs1061517
gopubmed	rs1061517
geneview	rs1061517
scholar	rs1061517
google	rs1061517
pharmgkb	rs1061517
gwascentral	rs1061517
openSNP	rs1061517
23andMe	rs1061517
23andMe all	rs1061517
SNP Nexus
SNPshot	rs1061517
SNPdbe	rs1061517
MSV3d	rs1061517

Gene	CCDC127, SDHA

Chromosome

5

Orientation

plus

Position

218471

Reference

GRCh37.p2 37.2/134

Max Magnitude

0

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs1061517(A;G)

Make rs1061517(G;G)

OMIM	600857
Desc
Variant	0003
Related	also

ClinVar
Risk	rs1061517(C,G;C,G)
Normal	rs1061517(A;A)
Significance	5
Disease	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY
ClinVar	info
Gene	SDHA
CLNDBN	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY
Reversed	0
CLNHGVS	NC_000005.9:g.218471A>C
CLNSRC	OMIM Allelic Variant