rs398123036

Orientation

plus

Stabilized

plus

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

Make rs398123036(C;T)

Make rs398123036(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

45516118

Gene

LARS2

is a	snp
is	mentioned by
dbSNP	rs398123036
dbSNP (classic)	rs398123036
ClinGen	rs398123036
ebi	rs398123036
HLI	rs398123036
Exac	rs398123036
Gnomad	rs398123036
Varsome	rs398123036
LitVar	rs398123036
Map	rs398123036
PheGenI	rs398123036
Biobank	rs398123036
1000 genomes	rs398123036
hgdp	rs398123036
ensembl	rs398123036
geneview	rs398123036
scholar	rs398123036
google	rs398123036
pharmgkb	rs398123036
gwascentral	rs398123036
openSNP	rs398123036
23andMe	rs398123036
SNPshot	rs398123036
SNPdbe	rs398123036
MSV3d	rs398123036
GWAS Ctlg	rs398123036

Max Magnitude

0

ClinVar
Risk	rs398123036(T;T)
Alt	rs398123036(T;T)
Reference	Rs398123036(C;C)
Significance	Pathogenic
Disease	Perrault syndrome 4
Variation	info
Gene	LARS2
CLNDBN	Perrault syndrome 4
Reversed	0
HGVS	NC_000003.11:g.45557610C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000049286.4,