rs587783070

Orientation

plus

Stabilized

plus

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

Make rs587783070(C;T)

Make rs587783070(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

220143109

Gene

IARS2

is a	snp
is	mentioned by
dbSNP	rs587783070
dbSNP (classic)	rs587783070
ClinGen	rs587783070
ebi	rs587783070
HLI	rs587783070
Exac	rs587783070
Gnomad	rs587783070
Varsome	rs587783070
LitVar	rs587783070
Map	rs587783070
PheGenI	rs587783070
Biobank	rs587783070
1000 genomes	rs587783070
hgdp	rs587783070
ensembl	rs587783070
geneview	rs587783070
scholar	rs587783070
google	rs587783070
pharmgkb	rs587783070
gwascentral	rs587783070
openSNP	rs587783070
23andMe	rs587783070
SNPshot	rs587783070
SNPdbe	rs587783070
MSV3d	rs587783070
GWAS Ctlg	rs587783070

Max Magnitude

0

ClinVar
Risk	rs587783070(T;T)
Alt	rs587783070(T;T)
Reference	Rs587783070(C;C)
Significance	Pathogenic
Disease	Cataract Peripheral neuropathy growth hormone deficiency with short stature partial sensorineural deafness Cataracts
Variation	info
Gene	IARS2
CLNDBN	Cataract Peripheral neuropathy growth hormone deficiency with short stature partial sensorineural deafness Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
Reversed	0
HGVS	NC_000001.10:g.220316451C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144718.1, RCV000144954.4,