rs879255685

Orientation

plus

Stabilized

plus

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

Make rs879255685(A;A)

Make rs879255685(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

32731019

Gene	DNM1L, YARS2

is a	snp
is	mentioned by
dbSNP	rs879255685
dbSNP (classic)	rs879255685
ClinGen	rs879255685
ebi	rs879255685
HLI	rs879255685
Exac	rs879255685
Gnomad	rs879255685
Varsome	rs879255685
LitVar	rs879255685
Map	rs879255685
PheGenI	rs879255685
Biobank	rs879255685
1000 genomes	rs879255685
hgdp	rs879255685
ensembl	rs879255685
geneview	rs879255685
scholar	rs879255685
google	rs879255685
pharmgkb	rs879255685
gwascentral	rs879255685
openSNP	rs879255685
23andMe	rs879255685
SNPshot	rs879255685
SNPdbe	rs879255685
MSV3d	rs879255685
GWAS Ctlg	rs879255685

Max Magnitude

0

ClinVar
Risk	rs879255685(A;A)
Alt	rs879255685(A;A)
Reference	Rs879255685(G;G)
Significance	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.32883953G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239637.1,