rs863223953

Orientation

plus

Stabilized

plus

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

Make rs863223953(C;T)

Make rs863223953(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

32731362

Gene	DNM1L, YARS2

is a	snp
is	mentioned by
dbSNP	rs863223953
dbSNP (classic)	rs863223953
ClinGen	rs863223953
ebi	rs863223953
HLI	rs863223953
Exac	rs863223953
Gnomad	rs863223953
Varsome	rs863223953
LitVar	rs863223953
Map	rs863223953
PheGenI	rs863223953
Biobank	rs863223953
1000 genomes	rs863223953
hgdp	rs863223953
ensembl	rs863223953
geneview	rs863223953
scholar	rs863223953
google	rs863223953
pharmgkb	rs863223953
gwascentral	rs863223953
openSNP	rs863223953
23andMe	rs863223953
SNPshot	rs863223953
SNPdbe	rs863223953
MSV3d	rs863223953
GWAS Ctlg	rs863223953

Max Magnitude

0

ClinVar
Risk	rs863223953(T;T)
Alt	rs863223953(T;T)
Reference	Rs863223953(C;C)
Significance	Pathogenic
Disease	not provided Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Variation	info
Gene	YARS2 DNM1L
CLNDBN	not provided Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Reversed	0
HGVS	NC_000012.11:g.32884296C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000200196.2, RCV000239677.1,