rs786205157

Orientation

minus

Stabilized

minus

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

Make rs786205157(A;C)

Make rs786205157(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

70277057

Gene

AARS

is a	snp
is	mentioned by
dbSNP	rs786205157
dbSNP (classic)	rs786205157
ClinGen	rs786205157
ebi	rs786205157
HLI	rs786205157
Exac	rs786205157
Gnomad	rs786205157
Varsome	rs786205157
LitVar	rs786205157
Map	rs786205157
PheGenI	rs786205157
Biobank	rs786205157
1000 genomes	rs786205157
hgdp	rs786205157
ensembl	rs786205157
geneview	rs786205157
scholar	rs786205157
google	rs786205157
pharmgkb	rs786205157
gwascentral	rs786205157
openSNP	rs786205157
23andMe	rs786205157
SNPshot	rs786205157
SNPdbe	rs786205157
MSV3d	rs786205157
GWAS Ctlg	rs786205157

Max Magnitude

0

ClinVar
Risk	rs786205157(C;C)
Alt	rs786205157(C;C)
Reference	Rs786205157(A;A)
Significance	Pathogenic
Disease	Epileptic encephalopathy not provided
Variation	info
Gene	AARS
CLNDBN	Epileptic encephalopathy, early infantile, 29 not provided
Reversed	1
HGVS	NC_000016.9:g.70310960T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000170341.4, RCV000236174.1,