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rs398124247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124247(C;T)
Make rs398124247(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position131510287
GenePOMT1
is asnp
is mentioned by
dbSNPrs398124247
ebirs398124247
HLIrs398124247
Exacrs398124247
Varsomers398124247
Maprs398124247
PheGenIrs398124247
hapmaprs398124247
1000 genomesrs398124247
hgdprs398124247
ensemblrs398124247
gopubmedrs398124247
geneviewrs398124247
scholarrs398124247
googlers398124247
pharmgkbrs398124247
gwascentralrs398124247
openSNPrs398124247
23andMers398124247
23andMe allrs398124247
SNP Nexus

SNPshotrs398124247
SNPdbers398124247
MSV3drs398124247
GWAS Ctlgrs398124247
Max Magnitude0
ClinVar
Risk rs398124247(T;T)
Alt rs398124247(T;T)
Reference rs398124247(C;C)
Significance Pathogenic
Disease not provided Congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMT1
CLNDBN not provided Congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed 0
HGVS NC_000009.11:g.134385674C>T
CLNSRC HGMD
CLNACC RCV000081494.3, RCV000150013.1, RCV000180635.1,