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rs587783070

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783070(C;T)
Make rs587783070(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position220143109
GeneIARS2
is asnp
is mentioned by
dbSNPrs587783070
ebirs587783070
HLIrs587783070
Exacrs587783070
Varsomers587783070
Maprs587783070
PheGenIrs587783070
hapmaprs587783070
1000 genomesrs587783070
hgdprs587783070
ensemblrs587783070
gopubmedrs587783070
geneviewrs587783070
scholarrs587783070
googlers587783070
pharmgkbrs587783070
gwascentralrs587783070
openSNPrs587783070
23andMers587783070
23andMe allrs587783070
SNP Nexus

SNPshotrs587783070
SNPdbers587783070
MSV3drs587783070
GWAS Ctlgrs587783070
Max Magnitude0
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 VariO
CLNACC RCV000144718.1, RCV000144954.4,