rs1057518694

Orientation

plus

Stabilized

plus

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

Make rs1057518694(A;A)

Make rs1057518694(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

32731069

Gene	DNM1L, YARS2

is a	snp
is	mentioned by
dbSNP	rs1057518694
dbSNP (classic)	rs1057518694
ClinGen	rs1057518694
ebi	rs1057518694
HLI	rs1057518694
Exac	rs1057518694
Gnomad	rs1057518694
Varsome	rs1057518694
LitVar	rs1057518694
Map	rs1057518694
PheGenI	rs1057518694
Biobank	rs1057518694
1000 genomes	rs1057518694
hgdp	rs1057518694
ensembl	rs1057518694
geneview	rs1057518694
scholar	rs1057518694
google	rs1057518694
pharmgkb	rs1057518694
gwascentral	rs1057518694
openSNP	rs1057518694
23andMe	rs1057518694
SNPshot	rs1057518694
SNPdbe	rs1057518694
MSV3d	rs1057518694
GWAS Ctlg	rs1057518694

Max Magnitude

0

ClinVar
Risk	rs1057518694(A;A)
Alt	rs1057518694(A;A)
Reference	Rs1057518694(G;G)
Significance	Probable-Pathogenic
Disease	Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Variation	info
Gene	YARS2 DNM1L
CLNDBN	Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Reversed	0
HGVS	NC_000012.11:g.32884003G>A
CLNSRC
CLNACC	RCV000414839.1,