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rs587777606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777606(A;A)
Make rs587777606(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position62691300
GeneBSCL2, HNRNPUL2-BSCL2, LRRN4CL
is asnp
is mentioned by
dbSNPrs587777606
ebirs587777606
HLIrs587777606
Exacrs587777606
Varsomers587777606
Maprs587777606
PheGenIrs587777606
hapmaprs587777606
1000 genomesrs587777606
hgdprs587777606
ensemblrs587777606
gopubmedrs587777606
geneviewrs587777606
scholarrs587777606
googlers587777606
pharmgkbrs587777606
gwascentralrs587777606
openSNPrs587777606
23andMers587777606
23andMe allrs587777606
SNP Nexus

SNPshotrs587777606
SNPdbers587777606
MSV3drs587777606
GWAS Ctlgrs587777606
Max Magnitude0
ClinVar
Risk rs587777606(A;A)
Alt rs587777606(A;A)
Reference rs587777606(G;G)
Significance Pathogenic
Disease Encephalopathy
Variation info
Gene HNRNPUL2-BSCL2 BSCL2 LRRN4CL
CLNDBN Encephalopathy, progressive, with or without lipodystrophy
Reversed 0
HGVS NC_000011.9:g.62458772G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000133397.2,