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rs137852972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852972(A;G)
Make rs137852972(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position62702499
GeneBSCL2
is asnp
is mentioned by
dbSNPrs137852972
ebirs137852972
HLIrs137852972
Exacrs137852972
Varsomers137852972
Maprs137852972
PheGenIrs137852972
hapmaprs137852972
1000 genomesrs137852972
hgdprs137852972
ensemblrs137852972
gopubmedrs137852972
geneviewrs137852972
scholarrs137852972
googlers137852972
pharmgkbrs137852972
gwascentralrs137852972
openSNPrs137852972
23andMers137852972
23andMe allrs137852972
SNP Nexus

SNPshotrs137852972
SNPdbers137852972
MSV3drs137852972
GWAS Ctlgrs137852972
Max Magnitude0
OMIM606158
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852972(G;G)
Alt rs137852972(G;G)
Reference rs137852972(A;A)
Significance Pathogenic
Disease Silver spastic paraplegia syndrome Distal hereditary motor neuronopathy type 5 Charcot-Marie-Tooth disease
Variation info
Gene HNRNPUL2-BSCL2 BSCL2
CLNDBN Silver spastic paraplegia syndrome Distal hereditary motor neuronopathy type 5 Charcot-Marie-Tooth disease, type 2
Reversed 1
HGVS NC_000011.9:g.62469971T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004801.6, RCV000004802.7, RCV000168078.2,