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rs869025562

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025562(C;C)
Make rs869025562(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position127639339
GeneLIMS2
is asnp
is mentioned by
dbSNPrs869025562
ebirs869025562
HLIrs869025562
Exacrs869025562
Varsomers869025562
Maprs869025562
PheGenIrs869025562
hapmaprs869025562
1000 genomesrs869025562
hgdprs869025562
ensemblrs869025562
gopubmedrs869025562
geneviewrs869025562
scholarrs869025562
googlers869025562
pharmgkbrs869025562
gwascentralrs869025562
openSNPrs869025562
23andMers869025562
23andMe allrs869025562
SNP Nexus

SNPshotrs869025562
SNPdbers869025562
MSV3drs869025562
GWAS Ctlgrs869025562
Max Magnitude0
ClinVar
Risk rs869025562(C;C)
Alt rs869025562(C;C)
Reference rs869025562(T;T)
Significance Pathogenic
Disease Muscular dystrophy
Variation info
Gene LIMS2
CLNDBN Muscular dystrophy, limb-girdle, type 2W
Reversed 1
HGVS NC_000002.11:g.128396914A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000208564.2,