Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057517660

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517660(A;G)
Make rs1057517660(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position62692475
GeneBSCL2, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs1057517660
dbSNP (old)rs1057517660
ClinGenrs1057517660
ebirs1057517660
HLIrs1057517660
Exacrs1057517660
Gnomadrs1057517660
Varsomers1057517660
Maprs1057517660
PheGenIrs1057517660
Biobankrs1057517660
1000 genomesrs1057517660
hgdprs1057517660
ensemblrs1057517660
gopubmedrs1057517660
geneviewrs1057517660
scholarrs1057517660
googlers1057517660
pharmgkbrs1057517660
gwascentralrs1057517660
openSNPrs1057517660
23andMers1057517660
23andMe allrs1057517660
SNPshotrs1057517660
SNPdbers1057517660
MSV3drs1057517660
GWAS Ctlgrs1057517660
Max Magnitude0
ClinVar
Risk rs1057517660(G;G)
Alt rs1057517660(G;G)
Reference Rs1057517660(A;A)
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.62459947T>C
CLNSRC
CLNACC RCV000412607.1,