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rs864309643

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309643(A;A)
Make rs864309643(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position45516144
GeneLARS2
is asnp
is mentioned by
dbSNPrs864309643
dbSNP (classic)rs864309643
ClinGenrs864309643
ebirs864309643
HLIrs864309643
Exacrs864309643
Gnomadrs864309643
Varsomers864309643
LitVarrs864309643
Maprs864309643
PheGenIrs864309643
Biobankrs864309643
1000 genomesrs864309643
hgdprs864309643
ensemblrs864309643
geneviewrs864309643
scholarrs864309643
googlers864309643
pharmgkbrs864309643
gwascentralrs864309643
openSNPrs864309643
23andMers864309643
SNPshotrs864309643
SNPdbers864309643
MSV3drs864309643
GWAS Ctlgrs864309643
Max Magnitude0
ClinVar
Risk rs864309643(A;A)
Alt rs864309643(A;A)
Reference Rs864309643(G;G)
Significance Pathogenic
Disease Perrault syndrome 4
Variation info
Gene LARS2
CLNDBN Perrault syndrome 4
Reversed 0
HGVS NC_000003.11:g.45557636G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000203255.2, RCV000203256.1,