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rs587777423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777423(C;T)
Make rs587777423(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position43122149
GenePOMK
is asnp
is mentioned by
dbSNPrs587777423
ebirs587777423
HLIrs587777423
Exacrs587777423
Varsomers587777423
Maprs587777423
PheGenIrs587777423
hapmaprs587777423
1000 genomesrs587777423
hgdprs587777423
ensemblrs587777423
gopubmedrs587777423
geneviewrs587777423
scholarrs587777423
googlers587777423
pharmgkbrs587777423
gwascentralrs587777423
openSNPrs587777423
23andMers587777423
23andMe allrs587777423
SNP Nexus

SNPshotrs587777423
SNPdbers587777423
MSV3drs587777423
GWAS Ctlgrs587777423
Max Magnitude0
ClinVar
Risk rs587777423(G,T;G,T)
Alt rs587777423(G,T;G,T)
Reference rs587777423(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation info
Gene POMK SGK196
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12
Reversed 0
HGVS NC_000008.10:g.42977292C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000119846.4, RCV000148014.4,