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rs398124243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs398124243(AG;TC)
Make rs398124243(TC;TC)
ReferenceGRCh38 38.1/141
Chromosome9
Position131515464
GenePOMT1
is asnp
is mentioned by
dbSNPrs398124243
ebirs398124243
HLIrs398124243
Exacrs398124243
Varsomers398124243
Maprs398124243
PheGenIrs398124243
hapmaprs398124243
1000 genomesrs398124243
hgdprs398124243
ensemblrs398124243
gopubmedrs398124243
geneviewrs398124243
scholarrs398124243
googlers398124243
pharmgkbrs398124243
gwascentralrs398124243
openSNPrs398124243
23andMers398124243
23andMe allrs398124243
SNP Nexus

SNPshotrs398124243
SNPdbers398124243
MSV3drs398124243
GWAS Ctlgrs398124243
Max Magnitude0
ClinVar
Risk rs398124243(TC;TC)
Alt rs398124243(TC;TC)
Reference rs398124243(AG;AG)
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.134390851_134390852delAGinsTC
CLNSRC ClinVar
CLNACC RCV000081479.3, RCV000174566.1,