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rs764210532

From SNPedia

Orientationplus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs764210532(-;-)
Make rs764210532(-;TA)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position77291326
GenePOMT2
is asnp
is mentioned by
dbSNPrs764210532
ebirs764210532
HLIrs764210532
Exacrs764210532
Varsomers764210532
Maprs764210532
PheGenIrs764210532
hapmaprs764210532
1000 genomesrs764210532
hgdprs764210532
ensemblrs764210532
gopubmedrs764210532
geneviewrs764210532
scholarrs764210532
googlers764210532
pharmgkbrs764210532
gwascentralrs764210532
openSNPrs764210532
23andMers764210532
23andMe allrs764210532
SNP Nexus

SNPshotrs764210532
SNPdbers764210532
MSV3drs764210532
GWAS Ctlgrs764210532
Max Magnitude0
ClinVar
Risk rs764210532(;)
Alt rs764210532(;)
Reference rs764210532(TA;TA)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene POMT2
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
Reversed 0
HGVS NC_000014.8:g.77757669_77757670delTA
CLNSRC
CLNACC RCV000231660.1,