rs143370729

Orientation

plus

Stabilized

plus

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

Make rs143370729(C;C)

Make rs143370729(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

70255763

Gene

AARS

is a	snp
is	mentioned by
dbSNP	rs143370729
dbSNP (classic)	rs143370729
ClinGen	rs143370729
ebi	rs143370729
HLI	rs143370729
Exac	rs143370729
Gnomad	rs143370729
Varsome	rs143370729
LitVar	rs143370729
Map	rs143370729
PheGenI	rs143370729
Biobank	rs143370729
1000 genomes	rs143370729
hgdp	rs143370729
ensembl	rs143370729
geneview	rs143370729
scholar	rs143370729
google	rs143370729
pharmgkb	rs143370729
gwascentral	rs143370729
openSNP	rs143370729
23andMe	rs143370729
SNPshot	rs143370729
SNPdbe	rs143370729
MSV3d	rs143370729
GWAS Ctlg	rs143370729

Max Magnitude

0

ClinVar
Risk	rs143370729(C;C)
Alt	rs143370729(C;C)
Reference	Rs143370729(T;T)
Significance	Pathogenic
Disease	Epileptic encephalopathy not specified
Variation	info
Gene	AARS
CLNDBN	Epileptic encephalopathy, early infantile, 29 not specified
Reversed	0
HGVS	NC_000016.9:g.70289666T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000170342.4, RCV000236870.2,