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rs786205073

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205073(C;G)
Make rs786205073(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position62691424
GeneBSCL2, HNRNPUL2-BSCL2, LRRN4CL
is asnp
is mentioned by
dbSNPrs786205073
ebirs786205073
HLIrs786205073
Exacrs786205073
Varsomers786205073
Maprs786205073
PheGenIrs786205073
hapmaprs786205073
1000 genomesrs786205073
hgdprs786205073
ensemblrs786205073
gopubmedrs786205073
geneviewrs786205073
scholarrs786205073
googlers786205073
pharmgkbrs786205073
gwascentralrs786205073
openSNPrs786205073
23andMers786205073
23andMe allrs786205073
SNP Nexus

SNPshotrs786205073
SNPdbers786205073
MSV3drs786205073
GWAS Ctlgrs786205073
Max Magnitude0
ClinVar
Risk rs786205073(G;G)
Alt rs786205073(G;G)
Reference rs786205073(C;C)
Significance Pathogenic
Disease Congenital generalized lipodystrophy type 2
Variation info
Gene HNRNPUL2-BSCL2 BSCL2 LRRN4CL
CLNDBN Congenital generalized lipodystrophy type 2
Reversed 1
HGVS NC_000011.9:g.62458896G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004800.3,