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rs137852974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852974(C;T)
Make rs137852974(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position62691132
GeneBSCL2, LRRN4CL
is asnp
is mentioned by
dbSNPrs137852974
ebirs137852974
HLIrs137852974
Exacrs137852974
Varsomers137852974
Maprs137852974
PheGenIrs137852974
hapmaprs137852974
1000 genomesrs137852974
hgdprs137852974
ensemblrs137852974
gopubmedrs137852974
geneviewrs137852974
scholarrs137852974
googlers137852974
pharmgkbrs137852974
gwascentralrs137852974
openSNPrs137852974
23andMers137852974
23andMe allrs137852974
SNP Nexus

SNPshotrs137852974
SNPdbers137852974
MSV3drs137852974
GWAS Ctlgrs137852974
Max Magnitude0
OMIM606158
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137852974(T;T)
Alt rs137852974(T;T)
Reference rs137852974(C;C)
Significance Pathogenic
Disease Congenital generalized lipodystrophy type 2
Variation info
Gene HNRNPUL2-BSCL2 BSCL2 LRRN4CL
CLNDBN Congenital generalized lipodystrophy type 2
Reversed 1
HGVS NC_000011.9:g.62458604G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004804.3,