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rs786205072

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205072(A;A)
Make rs786205072(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position62692371
GeneBSCL2, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs786205072
ebirs786205072
HLIrs786205072
Exacrs786205072
Varsomers786205072
Maprs786205072
PheGenIrs786205072
hapmaprs786205072
1000 genomesrs786205072
hgdprs786205072
ensemblrs786205072
gopubmedrs786205072
geneviewrs786205072
scholarrs786205072
googlers786205072
pharmgkbrs786205072
gwascentralrs786205072
openSNPrs786205072
23andMers786205072
23andMe allrs786205072
SNP Nexus

SNPshotrs786205072
SNPdbers786205072
MSV3drs786205072
GWAS Ctlgrs786205072
Max Magnitude0
ClinVar
Risk rs786205072(A;A)
Alt rs786205072(A;A)
Reference rs786205072(G;G)
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.62459843C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004799.3,