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rs1057517657

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517657(C;T)
Make rs1057517657(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position62705371
GeneBSCL2, GNG3, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs1057517657
dbSNP (old)rs1057517657
ClinGenrs1057517657
ebirs1057517657
HLIrs1057517657
Exacrs1057517657
Gnomadrs1057517657
Varsomers1057517657
Maprs1057517657
PheGenIrs1057517657
Biobankrs1057517657
1000 genomesrs1057517657
hgdprs1057517657
ensemblrs1057517657
gopubmedrs1057517657
geneviewrs1057517657
scholarrs1057517657
googlers1057517657
pharmgkbrs1057517657
gwascentralrs1057517657
openSNPrs1057517657
23andMers1057517657
23andMe allrs1057517657
SNPshotrs1057517657
SNPdbers1057517657
MSV3drs1057517657
GWAS Ctlgrs1057517657
Max Magnitude0
ClinVar
Risk rs1057517657(T;T)
Alt rs1057517657(T;T)
Reference Rs1057517657(C;C)
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.62472843G>A
CLNSRC
CLNACC RCV000412592.1,