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rs137852973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852973(C;T)
Make rs137852973(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position62702493
GeneBSCL2
is asnp
is mentioned by
dbSNPrs137852973
ebirs137852973
HLIrs137852973
Exacrs137852973
Varsomers137852973
Maprs137852973
PheGenIrs137852973
hapmaprs137852973
1000 genomesrs137852973
hgdprs137852973
ensemblrs137852973
gopubmedrs137852973
geneviewrs137852973
scholarrs137852973
googlers137852973
pharmgkbrs137852973
gwascentralrs137852973
openSNPrs137852973
23andMers137852973
23andMe allrs137852973
SNP Nexus

SNPshotrs137852973
SNPdbers137852973
MSV3drs137852973
GWAS Ctlgrs137852973
Max Magnitude0
OMIM606158
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137852973(T;T)
Alt rs137852973(T;T)
Reference rs137852973(C;C)
Significance Pathogenic
Disease Silver spastic paraplegia syndrome not provided
Variation info
Gene HNRNPUL2-BSCL2 BSCL2
CLNDBN Silver spastic paraplegia syndrome not provided
Reversed 1
HGVS NC_000011.9:g.62469965G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004803.3, RCV000235980.1,