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

rs1057517658

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517658(-;TT)
Make rs1057517658(TT;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position62705357
GeneBSCL2, GNG3, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs1057517658
dbSNP (old)rs1057517658
ClinGenrs1057517658
ebirs1057517658
HLIrs1057517658
Exacrs1057517658
Gnomadrs1057517658
Varsomers1057517658
Maprs1057517658
PheGenIrs1057517658
Biobankrs1057517658
1000 genomesrs1057517658
hgdprs1057517658
ensemblrs1057517658
gopubmedrs1057517658
geneviewrs1057517658
scholarrs1057517658
googlers1057517658
pharmgkbrs1057517658
gwascentralrs1057517658
openSNPrs1057517658
23andMers1057517658
23andMe allrs1057517658
SNPshotrs1057517658
SNPdbers1057517658
MSV3drs1057517658
GWAS Ctlgrs1057517658
Max Magnitude0
ClinVar
Risk rs1057517658(TT;TT)
Alt rs1057517658(TT;TT)
Reference Rs1057517658(-;-)
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.62472830_62472831dupAA
CLNSRC
CLNACC RCV000412654.1,