Have questions? Visit https://www.reddit.com/r/SNPedia

rs606231306

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs606231306(-;-)
Make rs606231306(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position43122112
GenePOMK
is asnp
is mentioned by
dbSNPrs606231306
ebirs606231306
HLIrs606231306
Exacrs606231306
Varsomers606231306
Maprs606231306
PheGenIrs606231306
hapmaprs606231306
1000 genomesrs606231306
hgdprs606231306
ensemblrs606231306
gopubmedrs606231306
geneviewrs606231306
scholarrs606231306
googlers606231306
pharmgkbrs606231306
gwascentralrs606231306
openSNPrs606231306
23andMers606231306
23andMe allrs606231306
SNP Nexus

SNPshotrs606231306
SNPdbers606231306
MSV3drs606231306
GWAS Ctlgrs606231306
Max Magnitude0
ClinVar
Risk rs606231306(;)
Alt rs606231306(;)
Reference rs606231306(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.42977255delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000148015.4,