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rs758843908

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs758843908(-;-)
Make rs758843908(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position62692411
GeneBSCL2, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs758843908
ebirs758843908
HLIrs758843908
Exacrs758843908
Varsomers758843908
Maprs758843908
PheGenIrs758843908
hapmaprs758843908
1000 genomesrs758843908
hgdprs758843908
ensemblrs758843908
gopubmedrs758843908
geneviewrs758843908
scholarrs758843908
googlers758843908
pharmgkbrs758843908
gwascentralrs758843908
openSNPrs758843908
23andMers758843908
23andMe allrs758843908
SNP Nexus

SNPshotrs758843908
SNPdbers758843908
MSV3drs758843908
GWAS Ctlgrs758843908
Max Magnitude0
ClinVar
Risk rs758843908(;)
Alt rs758843908(;)
Reference rs758843908(G;G)
Significance Pathogenic
Disease Congenital generalized lipodystrophy type 2
Variation info
Gene HNRNPUL2-BSCL2 BSCL2
CLNDBN Congenital generalized lipodystrophy type 2
Reversed 0
HGVS NC_000011.9:g.62459883delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004798.3,