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rs727502855

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502855(C;T)
Make rs727502855(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position77286815
GenePOMT2
is asnp
is mentioned by
dbSNPrs727502855
ebirs727502855
HLIrs727502855
Exacrs727502855
Varsomers727502855
Maprs727502855
PheGenIrs727502855
hapmaprs727502855
1000 genomesrs727502855
hgdprs727502855
ensemblrs727502855
gopubmedrs727502855
geneviewrs727502855
scholarrs727502855
googlers727502855
pharmgkbrs727502855
gwascentralrs727502855
openSNPrs727502855
23andMers727502855
23andMe allrs727502855
SNP Nexus

SNPshotrs727502855
SNPdbers727502855
MSV3drs727502855
GWAS Ctlgrs727502855
Max Magnitude0
ClinVar
Risk rs727502855(G,T;G,T)
Alt rs727502855(G,T;G,T)
Reference rs727502855(C;C)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene POMT2
CLNDBN Congenital muscular dystrophy Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
Reversed 1
HGVS NC_000014.8:g.77753158G>A
CLNSRC
CLNACC RCV000150021.1, RCV000231660.1,