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rs768056213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs768056213(A;A)
Make rs768056213(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position127654493
GeneLIMS2
is asnp
is mentioned by
dbSNPrs768056213
dbSNP (classic)rs768056213
ClinGenrs768056213
ebirs768056213
HLIrs768056213
Exacrs768056213
Gnomadrs768056213
Varsomers768056213
LitVarrs768056213
Maprs768056213
PheGenIrs768056213
Biobankrs768056213
1000 genomesrs768056213
hgdprs768056213
ensemblrs768056213
geneviewrs768056213
scholarrs768056213
googlers768056213
pharmgkbrs768056213
gwascentralrs768056213
openSNPrs768056213
23andMers768056213
SNPshotrs768056213
SNPdbers768056213
MSV3drs768056213
GWAS Ctlgrs768056213
Max Magnitude0
ClinVar
Risk rs768056213(A;A)
Alt rs768056213(A;A)
Reference Rs768056213(G;G)
Significance Pathogenic
Disease Muscular dystrophy
Variation info
Gene LIMS2
CLNDBN Muscular dystrophy, limb-girdle, type 2W
Reversed 0
HGVS NC_000002.11:g.128412067G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000208555.2,