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rs199589947

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199589947(A;A)
Make rs199589947(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position45496316
GeneLARS2, LARS2-AS1
is asnp
is mentioned by
dbSNPrs199589947
dbSNP (old)rs199589947
ClinGenrs199589947
ebirs199589947
HLIrs199589947
Exacrs199589947
Varsomers199589947
Maprs199589947
PheGenIrs199589947
Biobankrs199589947
1000 genomesrs199589947
hgdprs199589947
ensemblrs199589947
gopubmedrs199589947
geneviewrs199589947
scholarrs199589947
googlers199589947
pharmgkbrs199589947
gwascentralrs199589947
openSNPrs199589947
23andMers199589947
23andMe allrs199589947
SNP Nexus

SNPshotrs199589947
SNPdbers199589947
MSV3drs199589947
GWAS Ctlgrs199589947
GMAF0.0009183
Max Magnitude0
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,