rs199589947

Orientation

plus

Stabilized

plus

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

Make rs199589947(A;A)

Make rs199589947(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

45496316

Gene	LARS2, LARS2-AS1

is a	snp
is	mentioned by
dbSNP	rs199589947
dbSNP (classic)	rs199589947
ClinGen	rs199589947
ebi	rs199589947
HLI	rs199589947
Exac	rs199589947
Gnomad	rs199589947
Varsome	rs199589947
LitVar	rs199589947
Map	rs199589947
PheGenI	rs199589947
Biobank	rs199589947
1000 genomes	rs199589947
hgdp	rs199589947
ensembl	rs199589947
geneview	rs199589947
scholar	rs199589947
google	rs199589947
pharmgkb	rs199589947
gwascentral	rs199589947
openSNP	rs199589947
23andMe	rs199589947
SNPshot	rs199589947
SNPdbe	rs199589947
MSV3d	rs199589947
GWAS Ctlg	rs199589947

GMAF

0.0009183

Max Magnitude

0

ClinVar
Risk	rs199589947(A;A)
Alt	rs199589947(A;A)
Reference	Rs199589947(C;C)
Significance	Pathogenic
Disease	Perrault syndrome 4 Hydrops
Variation	info
Gene	LARS2 LARS2-AS1
CLNDBN	Perrault syndrome 4 Hydrops, lactic acidosis, and sideroblastic anemia
Reversed	0
HGVS	NC_000003.11:g.45537808C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000049285.4, RCV000235552.1,