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rs137852975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852975(G;T)
Make rs137852975(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position62692671
GeneBSCL2
is asnp
is mentioned by
dbSNPrs137852975
ebirs137852975
HLIrs137852975
Exacrs137852975
Varsomers137852975
Maprs137852975
PheGenIrs137852975
hapmaprs137852975
1000 genomesrs137852975
hgdprs137852975
ensemblrs137852975
gopubmedrs137852975
geneviewrs137852975
scholarrs137852975
googlers137852975
pharmgkbrs137852975
gwascentralrs137852975
openSNPrs137852975
23andMers137852975
23andMe allrs137852975
SNP Nexus

SNPshotrs137852975
SNPdbers137852975
MSV3drs137852975
GWAS Ctlgrs137852975
Max Magnitude0
OMIM606158
Desc
Variant0016
Relatedalso
ClinVar
Risk rs137852975(T;T)
Alt rs137852975(T;T)
Reference rs137852975(G;G)
Significance Pathogenic
Disease Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease
Variation info
Gene HNRNPUL2-BSCL2 BSCL2
CLNDBN Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease, type 2
Reversed 1
HGVS NC_000011.9:g.62460143C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004805.3, RCV000196081.1,