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rs137852970

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852970(C;T)
Make rs137852970(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position62694594
GeneBSCL2
is asnp
is mentioned by
dbSNPrs137852970
ebirs137852970
HLIrs137852970
Exacrs137852970
Varsomers137852970
Maprs137852970
PheGenIrs137852970
hapmaprs137852970
1000 genomesrs137852970
hgdprs137852970
ensemblrs137852970
gopubmedrs137852970
geneviewrs137852970
scholarrs137852970
googlers137852970
pharmgkbrs137852970
gwascentralrs137852970
openSNPrs137852970
23andMers137852970
23andMe allrs137852970
SNP Nexus

SNPshotrs137852970
SNPdbers137852970
MSV3drs137852970
GWAS Ctlgrs137852970
Max Magnitude0
OMIM606158
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852970(T;T)
Alt rs137852970(T;T)
Reference rs137852970(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.62462066G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004795.3,