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rs864309642

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309642(C;T)
Make rs864309642(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position45476508
GeneLARS2
is asnp
is mentioned by
dbSNPrs864309642
ebirs864309642
HLIrs864309642
Exacrs864309642
Varsomers864309642
Maprs864309642
PheGenIrs864309642
hapmaprs864309642
1000 genomesrs864309642
hgdprs864309642
ensemblrs864309642
gopubmedrs864309642
geneviewrs864309642
scholarrs864309642
googlers864309642
pharmgkbrs864309642
gwascentralrs864309642
openSNPrs864309642
23andMers864309642
23andMe allrs864309642
SNP Nexus

SNPshotrs864309642
SNPdbers864309642
MSV3drs864309642
GWAS Ctlgrs864309642
Max Magnitude0
ClinVar
Risk rs864309642(T;T)
Alt rs864309642(T;T)
Reference rs864309642(C;C)
Significance Pathogenic
Disease Perrault syndrome 4
Variation info
Gene LARS2
CLNDBN Perrault syndrome 4
Reversed 0
HGVS NC_000003.11:g.45518000C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203256.1, RCV000203257.2,