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rs786205071

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786205071(-;-)
Make rs786205071(-;A)
Make rs786205071(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position62694680
GeneBSCL2, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs786205071
ebirs786205071
HLIrs786205071
Exacrs786205071
Varsomers786205071
Maprs786205071
PheGenIrs786205071
hapmaprs786205071
1000 genomesrs786205071
hgdprs786205071
ensemblrs786205071
gopubmedrs786205071
geneviewrs786205071
scholarrs786205071
googlers786205071
pharmgkbrs786205071
gwascentralrs786205071
openSNPrs786205071
23andMers786205071
23andMe allrs786205071
SNP Nexus

SNPshotrs786205071
SNPdbers786205071
MSV3drs786205071
GWAS Ctlgrs786205071
Max Magnitude0
ClinVar
Risk rs786205071(A;A)
Alt rs786205071(A;A)
Reference rs786205071(;)
Significance Pathogenic
Disease Congenital generalized lipodystrophy type 2
Variation info
Gene HNRNPUL2-BSCL2 BSCL2
CLNDBN Congenital generalized lipodystrophy type 2
Reversed 1
HGVS NC_000011.9:g.62462153dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004794.3,