rs199474672

Orientation

plus

Stabilized

plus

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

Make rs199474672(-;T)

Make rs199474672(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

5537

is a	snp
is	mentioned by
dbSNP	rs199474672
dbSNP (classic)	rs199474672
ClinGen	rs199474672
ebi	rs199474672
HLI	rs199474672
Exac	rs199474672
Gnomad	rs199474672
Varsome	rs199474672
LitVar	rs199474672
Map	rs199474672
PheGenI	rs199474672
Biobank	rs199474672
1000 genomes	rs199474672
hgdp	rs199474672
ensembl	rs199474672
geneview	rs199474672
scholar	rs199474672
google	rs199474672
pharmgkb	rs199474672
gwascentral	rs199474672
openSNP	rs199474672
23andMe	rs199474672
SNPshot	rs199474672
SNPdbe	rs199474672
MSV3d	rs199474672
GWAS Ctlg	rs199474672

Max Magnitude

0

ClinVar
Risk	rs199474672(T;T)
Alt	rs199474672(T;T)
Reference	Rs199474672(-;-)
Significance	Pathogenic
Disease	Encephalopathy Leigh syndrome
Variation	info
Gene
CLNDBN	Encephalopathy, mitochondrial Leigh syndrome
Reversed	0
HGVS	NC_012920.1:m.5537_5538insT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010164.2, RCV000010165.3,