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rs754385302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs754385302(C;C)
Make rs754385302(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position127654507
GeneLIMS2
is asnp
is mentioned by
dbSNPrs754385302
dbSNP (classic)rs754385302
ClinGenrs754385302
ebirs754385302
HLIrs754385302
Exacrs754385302
Gnomadrs754385302
Varsomers754385302
LitVarrs754385302
Maprs754385302
PheGenIrs754385302
Biobankrs754385302
1000 genomesrs754385302
hgdprs754385302
ensemblrs754385302
geneviewrs754385302
scholarrs754385302
googlers754385302
pharmgkbrs754385302
gwascentralrs754385302
openSNPrs754385302
23andMers754385302
SNPshotrs754385302
SNPdbers754385302
MSV3drs754385302
GWAS Ctlgrs754385302
Max Magnitude0
ClinVar
Risk rs754385302(C;C)
Alt rs754385302(C;C)
Reference Rs754385302(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.128412081G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000208555.2,