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rs587777607

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777607(A;A)
Make rs587777607(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position62694660
GeneBSCL2, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs587777607
ebirs587777607
HLIrs587777607
Exacrs587777607
Varsomers587777607
Maprs587777607
PheGenIrs587777607
hapmaprs587777607
1000 genomesrs587777607
hgdprs587777607
ensemblrs587777607
gopubmedrs587777607
geneviewrs587777607
scholarrs587777607
googlers587777607
pharmgkbrs587777607
gwascentralrs587777607
openSNPrs587777607
23andMers587777607
23andMe allrs587777607
SNP Nexus

SNPshotrs587777607
SNPdbers587777607
MSV3drs587777607
GWAS Ctlgrs587777607
Max Magnitude0
ClinVar
Risk rs587777607(A,C;A,C)
Alt rs587777607(A,C;A,C)
Reference rs587777607(G;G)
Significance Pathogenic
Disease Encephalopathy
Variation info
Gene HNRNPUL2-BSCL2 BSCL2
CLNDBN Encephalopathy, progressive, with or without lipodystrophy
Reversed 1
HGVS NC_000011.9:g.62462132C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000133398.3,