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rs398124244

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398124244(A;C)
Make rs398124244(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position131506123
GenePOMT1
is asnp
is mentioned by
dbSNPrs398124244
ebirs398124244
HLIrs398124244
Exacrs398124244
Varsomers398124244
Maprs398124244
PheGenIrs398124244
hapmaprs398124244
1000 genomesrs398124244
hgdprs398124244
ensemblrs398124244
gopubmedrs398124244
geneviewrs398124244
scholarrs398124244
googlers398124244
pharmgkbrs398124244
gwascentralrs398124244
openSNPrs398124244
23andMers398124244
23andMe allrs398124244
SNP Nexus

SNPshotrs398124244
SNPdbers398124244
MSV3drs398124244
GWAS Ctlgrs398124244
Max Magnitude0
ClinVar
Risk rs398124244(C;C)
Alt rs398124244(C;C)
Reference rs398124244(A;A)
Significance Probable-Pathogenic
Disease not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMT1
CLNDBN not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed 0
HGVS NC_000009.11:g.134381510A>C
CLNSRC
CLNACC RCV000081481.3, RCV000177268.1,