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rs398124246

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124246(C;C)
Make rs398124246(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position131508935
GenePOMT1
is asnp
is mentioned by
dbSNPrs398124246
ebirs398124246
HLIrs398124246
Exacrs398124246
Varsomers398124246
Maprs398124246
PheGenIrs398124246
hapmaprs398124246
1000 genomesrs398124246
hgdprs398124246
ensemblrs398124246
gopubmedrs398124246
geneviewrs398124246
scholarrs398124246
googlers398124246
pharmgkbrs398124246
gwascentralrs398124246
openSNPrs398124246
23andMers398124246
23andMe allrs398124246
SNP Nexus

SNPshotrs398124246
SNPdbers398124246
MSV3drs398124246
GWAS Ctlgrs398124246
Max Magnitude0
ClinVar
Risk rs398124246(C;C)
Alt rs398124246(C;C)
Reference rs398124246(G;G)
Significance Probable-Pathogenic
Disease not provided Congenital muscular dystrophy
Variation info
Gene POMT1
CLNDBN not provided Congenital muscular dystrophy
Reversed 0
HGVS NC_000009.11:g.134384322G>C
CLNSRC
CLNACC RCV000081491.4, RCV000150012.1,