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rs772370177

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs772370177(A;A)
Make rs772370177(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position131509761
GenePOMT1
is asnp
is mentioned by
dbSNPrs772370177
dbSNP (classic)rs772370177
ClinGenrs772370177
ebirs772370177
HLIrs772370177
Exacrs772370177
Gnomadrs772370177
Varsomers772370177
LitVarrs772370177
Maprs772370177
PheGenIrs772370177
Biobankrs772370177
1000 genomesrs772370177
hgdprs772370177
ensemblrs772370177
geneviewrs772370177
scholarrs772370177
googlers772370177
pharmgkbrs772370177
gwascentralrs772370177
openSNPrs772370177
23andMers772370177
SNPshotrs772370177
SNPdbers772370177
MSV3drs772370177
GWAS Ctlgrs772370177
Max Magnitude0
ClinVar
Risk rs772370177(A;A) rs772370177(T;T)
Alt rs772370177(A;A) rs772370177(T;T)
Reference Rs772370177(G;G)
Significance Probable-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.134385148G>A
CLNSRC
CLNACC RCV000192686.1,