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rs745738628

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs745738628(C;C)
Make rs745738628(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position131522931
GenePOMT1
is asnp
is mentioned by
dbSNPrs745738628
ebirs745738628
HLIrs745738628
Exacrs745738628
Varsomers745738628
Maprs745738628
PheGenIrs745738628
hapmaprs745738628
1000 genomesrs745738628
hgdprs745738628
ensemblrs745738628
gopubmedrs745738628
geneviewrs745738628
scholarrs745738628
googlers745738628
pharmgkbrs745738628
gwascentralrs745738628
openSNPrs745738628
23andMers745738628
23andMe allrs745738628
SNP Nexus

SNPshotrs745738628
SNPdbers745738628
MSV3drs745738628
GWAS Ctlgrs745738628
Max Magnitude0
ClinVar
Risk rs745738628(C;C)
Alt rs745738628(C;C)
Reference rs745738628(G;G)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMT1
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed 0
HGVS NC_000009.11:g.134398318G>C
CLNSRC
CLNACC RCV000176087.1,