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rs28941782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28941782(A;A)
Make rs28941782(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position131506217
GenePOMT1
is asnp
is mentioned by
dbSNPrs28941782
ebirs28941782
HLIrs28941782
Exacrs28941782
Varsomers28941782
Maprs28941782
PheGenIrs28941782
hapmaprs28941782
1000 genomesrs28941782
hgdprs28941782
ensemblrs28941782
gopubmedrs28941782
geneviewrs28941782
scholarrs28941782
googlers28941782
pharmgkbrs28941782
gwascentralrs28941782
openSNPrs28941782
23andMers28941782
23andMe allrs28941782
SNP Nexus

SNPshotrs28941782
SNPdbers28941782
MSV3drs28941782
GWAS Ctlgrs28941782
Max Magnitude0
OMIM607423
DescWALKER-WARBURG SYNDROME
Variant0001
Relatedalso


ClinVar
Risk rs28941782(A;A)
Alt rs28941782(A;A)
Reference rs28941782(G;G)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMT1
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed 0
HGVS NC_000009.11:g.134381604G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003394.5,