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rs587777608

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACGAT;ACGAT) 0 common in clinvar
(ATCGTG;ATCGTG) 0 common in clinvar
Make rs587777608(-;-)
Make rs587777608(-;ACGAT)
ReferenceGRCh38 38.1/142
Chromosome11
Position62694685
GeneBSCL2, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs587777608
ebirs587777608
HLIrs587777608
Exacrs587777608
Varsomers587777608
Maprs587777608
PheGenIrs587777608
hapmaprs587777608
1000 genomesrs587777608
hgdprs587777608
ensemblrs587777608
gopubmedrs587777608
geneviewrs587777608
scholarrs587777608
googlers587777608
pharmgkbrs587777608
gwascentralrs587777608
openSNPrs587777608
23andMers587777608
23andMe allrs587777608
SNP Nexus

SNPshotrs587777608
SNPdbers587777608
MSV3drs587777608
GWAS Ctlgrs587777608
Max Magnitude0
ClinVar
Risk rs587777608(ACGATG,G;ACGATG,G)
Alt rs587777608(ACGATG,G;ACGATG,G)
Reference rs587777608(ATCGTG;ATCGTG)
Significance Pathogenic
Disease Congenital generalized lipodystrophy type 2 Encephalopathy
Variation info
Gene HNRNPUL2-BSCL2 BSCL2
CLNDBN Congenital generalized lipodystrophy type 2 Encephalopathy, progressive, with or without lipodystrophy
Reversed 1
HGVS NC_000011.9:g.62462157_62462161delACGAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004793.3, RCV000133399.3,