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rs755660222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs755660222(-;-)
Make rs755660222(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position77301228
GenePOMT2
is asnp
is mentioned by
dbSNPrs755660222
dbSNP (classic)rs755660222
ClinGenrs755660222
ebirs755660222
HLIrs755660222
Exacrs755660222
Gnomadrs755660222
Varsomers755660222
LitVarrs755660222
Maprs755660222
PheGenIrs755660222
Biobankrs755660222
1000 genomesrs755660222
hgdprs755660222
ensemblrs755660222
geneviewrs755660222
scholarrs755660222
googlers755660222
pharmgkbrs755660222
gwascentralrs755660222
openSNPrs755660222
23andMers755660222
SNPshotrs755660222
SNPdbers755660222
MSV3drs755660222
GWAS Ctlgrs755660222
Max Magnitude0
ClinVar
Risk rs755660222(-;-)
Alt rs755660222(-;-)
Reference Rs755660222(C;C)
Significance Pathogenic
Disease Muscular dystrophy
Variation info
Gene POMT2
CLNDBN Muscular dystrophy
Reversed 0
HGVS NC_000014.8:g.77767571delC
CLNSRC
CLNACC RCV000194245.1,