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

rs786205068

From SNPedia

Orientationminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs786205068(CC;GGA)
Make rs786205068(GGA;GGA)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position62705320
GeneBSCL2, GNG3, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs786205068
ebirs786205068
HLIrs786205068
Exacrs786205068
Varsomers786205068
Maprs786205068
PheGenIrs786205068
hapmaprs786205068
1000 genomesrs786205068
hgdprs786205068
ensemblrs786205068
gopubmedrs786205068
geneviewrs786205068
scholarrs786205068
googlers786205068
pharmgkbrs786205068
gwascentralrs786205068
openSNPrs786205068
23andMers786205068
23andMe allrs786205068
SNP Nexus

SNPshotrs786205068
SNPdbers786205068
MSV3drs786205068
GWAS Ctlgrs786205068
Max Magnitude0
ClinVar
Risk rs786205068(GGA;GGA)
Alt rs786205068(GGA;GGA)
Reference rs786205068(CC;CC)
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.62472792_62472793delGGinsTCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004789.3,