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rs1057517659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517659(C;GGA)
Make rs1057517659(GGA;GGA)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position62705320
GeneBSCL2, GNG3, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs1057517659
dbSNP (old)rs1057517659
ClinGenrs1057517659
ebirs1057517659
HLIrs1057517659
Exacrs1057517659
Gnomadrs1057517659
Varsomers1057517659
Maprs1057517659
PheGenIrs1057517659
Biobankrs1057517659
1000 genomesrs1057517659
hgdprs1057517659
ensemblrs1057517659
gopubmedrs1057517659
geneviewrs1057517659
scholarrs1057517659
googlers1057517659
pharmgkbrs1057517659
gwascentralrs1057517659
openSNPrs1057517659
23andMers1057517659
23andMe allrs1057517659
SNPshotrs1057517659
SNPdbers1057517659
MSV3drs1057517659
GWAS Ctlgrs1057517659
Max Magnitude0
ClinVar
Risk rs1057517659(GGA;GGA)
Alt rs1057517659(GGA;GGA)
Reference Rs1057517659(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.62472792delGinsTCC
CLNSRC
CLNACC RCV000412545.1,