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rs199756983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199756983(A;A)
Make rs199756983(A;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position43122729
GenePOMK
is asnp
is mentioned by
dbSNPrs199756983
ClinGenrs199756983
ebirs199756983
HLIrs199756983
Exacrs199756983
Varsomers199756983
Maprs199756983
PheGenIrs199756983
hapmaprs199756983
1000 genomesrs199756983
hgdprs199756983
ensemblrs199756983
gopubmedrs199756983
geneviewrs199756983
scholarrs199756983
googlers199756983
pharmgkbrs199756983
gwascentralrs199756983
openSNPrs199756983
23andMers199756983
23andMe allrs199756983
SNP Nexus

SNPshotrs199756983
SNPdbers199756983
MSV3drs199756983
GWAS Ctlgrs199756983
Max Magnitude0
ClinVar
Risk rs199756983(A;A)
Alt rs199756983(A;A)
Reference Rs199756983(T;T)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMK
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Reversed 0
HGVS NC_000008.10:g.42977872T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000148016.4,