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rs397509385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397509385(G;G)
Make rs397509385(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position43122234
GeneC7orf43
is asnp
is mentioned by
dbSNPrs397509385
ebirs397509385
HLIrs397509385
Exacrs397509385
Varsomers397509385
Maprs397509385
PheGenIrs397509385
hapmaprs397509385
1000 genomesrs397509385
hgdprs397509385
ensemblrs397509385
gopubmedrs397509385
geneviewrs397509385
scholarrs397509385
googlers397509385
pharmgkbrs397509385
gwascentralrs397509385
openSNPrs397509385
23andMers397509385
23andMe allrs397509385
SNP Nexus

SNPshotrs397509385
SNPdbers397509385
MSV3drs397509385
GWAS Ctlgrs397509385
Max Magnitude0
ClinVar
Risk rs397509385(G;G)
Alt rs397509385(G;G)
Reference rs397509385(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.42977377T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000043555.5,