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rs786205070

From SNPedia

Orientationminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs786205070(-;-)
Make rs786205070(-;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position62694690
GeneBSCL2, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs786205070
ebirs786205070
HLIrs786205070
Exacrs786205070
Varsomers786205070
Maprs786205070
PheGenIrs786205070
hapmaprs786205070
1000 genomesrs786205070
hgdprs786205070
ensemblrs786205070
gopubmedrs786205070
geneviewrs786205070
scholarrs786205070
googlers786205070
pharmgkbrs786205070
gwascentralrs786205070
openSNPrs786205070
23andMers786205070
23andMe allrs786205070
SNP Nexus

SNPshotrs786205070
SNPdbers786205070
MSV3drs786205070
GWAS Ctlgrs786205070
Max Magnitude0
ClinVar
Risk rs786205070(;)
Alt rs786205070(;)
Reference rs786205070(GT;GT)
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.62462162_62462163delAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004791.4,