Rs119463989

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119463989(C;T)
Make rs119463989(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position77278849
GenePOMT2
is asnp
is mentioned by
dbSNPrs119463989
PheGenIrs119463989
nextbiors119463989
hapmaprs119463989
1000 genomesrs119463989
hgdprs119463989
ensemblrs119463989
gopubmedrs119463989
geneviewrs119463989
scholarrs119463989
googlers119463989
pharmgkbrs119463989
gwascentralrs119463989
openSNPrs119463989
23andMers119463989
23andMe allrs119463989
SNP Nexus

SNPshotrs119463989
SNPdbers119463989
MSV3drs119463989
Max Magnitude0
OMIM607439
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119463989(T;T)
Alt rs119463989(T;T)
Reference rs119463989(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation info
Gene POMT2
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
Reversed 1
HGVS NC_000014.8:g.77745192G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003373.1,