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rs138902646

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138902646(C;T)
Make rs138902646(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position131523025
GenePOMT1
is asnp
is mentioned by
dbSNPrs138902646
ebirs138902646
HLIrs138902646
Exacrs138902646
Varsomers138902646
Maprs138902646
PheGenIrs138902646
hapmaprs138902646
1000 genomesrs138902646
hgdprs138902646
ensemblrs138902646
gopubmedrs138902646
geneviewrs138902646
scholarrs138902646
googlers138902646
pharmgkbrs138902646
gwascentralrs138902646
openSNPrs138902646
23andMers138902646
23andMe allrs138902646
SNP Nexus

SNPshotrs138902646
SNPdbers138902646
MSV3drs138902646
GWAS Ctlgrs138902646
Max Magnitude0
ClinVar
Risk rs138902646(A,T;A,T)
Alt rs138902646(A,T;A,T)
Reference rs138902646(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy not provided
Variation info
Gene POMT1
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 not provided
Reversed 0
HGVS NC_000009.11:g.134398412C>A; NC_000009.11:g.134398412C>T
CLNSRC
CLNACC RCV000176088.1, RCV000176086.1,