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rs1057516190

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516190(A;A)
Make rs1057516190(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position62690439
GeneBSCL2, HNRNPUL2-BSCL2, LRRN4CL
is asnp
is mentioned by
dbSNPrs1057516190
dbSNP (old)rs1057516190
ClinGenrs1057516190
ebirs1057516190
HLIrs1057516190
Exacrs1057516190
Gnomadrs1057516190
Varsomers1057516190
LitVarrs1057516190
Maprs1057516190
PheGenIrs1057516190
Biobankrs1057516190
1000 genomesrs1057516190
hgdprs1057516190
ensemblrs1057516190
gopubmedrs1057516190
geneviewrs1057516190
scholarrs1057516190
googlers1057516190
pharmgkbrs1057516190
gwascentralrs1057516190
openSNPrs1057516190
23andMers1057516190
23andMe allrs1057516190
SNPshotrs1057516190
SNPdbers1057516190
MSV3drs1057516190
GWAS Ctlgrs1057516190
Max Magnitude0
ClinVar
Risk rs1057516190(A;A)
Alt rs1057516190(A;A)
Reference Rs1057516190(C;C)
Significance Probable-Pathogenic
Disease Familial partial lipodystrophy 3
Variation info
Gene HNRNPUL2-BSCL2 BSCL2 LRRN4CL
CLNDBN Familial partial lipodystrophy 3
Reversed 1
HGVS NC_000011.9:g.62457911G>T
CLNSRC
CLNACC RCV000408866.1,