Have questions? Visit https://www.reddit.com/r/SNPedia

rs786205069

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786205069(-;-)
Make rs786205069(-;AA)
Make rs786205069(AA;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position62694704
GeneBSCL2, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs786205069
ebirs786205069
HLIrs786205069
Exacrs786205069
Varsomers786205069
Maprs786205069
PheGenIrs786205069
hapmaprs786205069
1000 genomesrs786205069
hgdprs786205069
ensemblrs786205069
gopubmedrs786205069
geneviewrs786205069
scholarrs786205069
googlers786205069
pharmgkbrs786205069
gwascentralrs786205069
openSNPrs786205069
23andMers786205069
23andMe allrs786205069
SNP Nexus

SNPshotrs786205069
SNPdbers786205069
MSV3drs786205069
GWAS Ctlgrs786205069
Max Magnitude0
ClinVar
Risk rs786205069(AA;AA)
Alt rs786205069(AA;AA)
Reference rs786205069(;)
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.62462176_62462177insTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004790.3,