rs367543010

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(T;T)	0	common in clinvar
(TT;TT)	0	common in clinvar
(TTT;TTT)	0	common in clinvar

Make rs367543010(C;C)

Make rs367543010(C;TT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

173828312

Gene

DARS2

is a	snp
is	mentioned by
dbSNP	rs367543010
dbSNP (classic)	rs367543010
ClinGen	rs367543010
ebi	rs367543010
HLI	rs367543010
Exac	rs367543010
Gnomad	rs367543010
Varsome	rs367543010
LitVar	rs367543010
Map	rs367543010
PheGenI	rs367543010
Biobank	rs367543010
1000 genomes	rs367543010
hgdp	rs367543010
ensembl	rs367543010
geneview	rs367543010
scholar	rs367543010
google	rs367543010
pharmgkb	rs367543010
gwascentral	rs367543010
openSNP	rs367543010
23andMe	rs367543010
SNPshot	rs367543010
SNPdbe	rs367543010
MSV3d	rs367543010
GWAS Ctlg	rs367543010

Max Magnitude

0

ClinVar
Risk	rs367543010(C;C) rs367543010(CC;CC) Rs367543010(TT;TT)
Alt	rs367543010(C;C) rs367543010(CC;CC) Rs367543010(TT;TT)
Reference	Rs367543010(-;-)
Significance	Pathogenic
Disease	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Dysmetria Gait ataxia Gait imbalance
Variation	info
Gene	DARS2
CLNDBN	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Dysmetria Gait ataxia Gait imbalance
Reversed	0
HGVS	NC_000001.10:g.173797450_173797451delTTinsC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001112.3, RCV000415026.1,

[PMID 20506600] Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation