rs376177973

Orientation

plus

Stabilized

plus

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

Make rs376177973(G;T)

Make rs376177973(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

140697311

Gene

HARS2

is a	snp
is	mentioned by
dbSNP	rs376177973
dbSNP (classic)	rs376177973
ClinGen	rs376177973
ebi	rs376177973
HLI	rs376177973
Exac	rs376177973
Gnomad	rs376177973
Varsome	rs376177973
LitVar	rs376177973
Map	rs376177973
PheGenI	rs376177973
Biobank	rs376177973
1000 genomes	rs376177973
hgdp	rs376177973
ensembl	rs376177973
geneview	rs376177973
scholar	rs376177973
google	rs376177973
pharmgkb	rs376177973
gwascentral	rs376177973
openSNP	rs376177973
23andMe	rs376177973
SNPshot	rs376177973
SNPdbe	rs376177973
MSV3d	rs376177973
GWAS Ctlg	rs376177973

Max Magnitude

0

ClinVar
Risk	rs376177973(A;A) rs376177973(T;T)
Alt	rs376177973(A;A) rs376177973(T;T)
Reference	Rs376177973(G;G)
Significance	Probable-Pathogenic
Disease	Perrault syndrome 2
Variation	info
Gene	HARS2 ZMAT2
CLNDBN	Perrault syndrome 2
Reversed	0
HGVS	NC_000005.9:g.140076896G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000206915.1,