Have questions? Visit https://www.reddit.com/r/SNPedia

rs200056620

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200056620(C;T)
Make rs200056620(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position131513243
GenePOMT1
is asnp
is mentioned by
dbSNPrs200056620
ebirs200056620
HLIrs200056620
Exacrs200056620
Varsomers200056620
Maprs200056620
PheGenIrs200056620
hapmaprs200056620
1000 genomesrs200056620
hgdprs200056620
ensemblrs200056620
gopubmedrs200056620
geneviewrs200056620
scholarrs200056620
googlers200056620
pharmgkbrs200056620
gwascentralrs200056620
openSNPrs200056620
23andMers200056620
23andMe allrs200056620
SNP Nexus

SNPshotrs200056620
SNPdbers200056620
MSV3drs200056620
GWAS Ctlgrs200056620
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs200056620(T;T)
Alt rs200056620(T;T)
Reference rs200056620(C;C)
Significance 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.134388630C>T
CLNSRC HGMD
CLNACC RCV000081477.4, RCV000174358.1,