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

rs397509386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397509386(A;G)
Make rs397509386(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position43122597
GeneC7orf43
is asnp
is mentioned by
dbSNPrs397509386
ebirs397509386
HLIrs397509386
Exacrs397509386
Varsomers397509386
Maprs397509386
PheGenIrs397509386
hapmaprs397509386
1000 genomesrs397509386
hgdprs397509386
ensemblrs397509386
gopubmedrs397509386
geneviewrs397509386
scholarrs397509386
googlers397509386
pharmgkbrs397509386
gwascentralrs397509386
openSNPrs397509386
23andMers397509386
23andMe allrs397509386
SNP Nexus

SNPshotrs397509386
SNPdbers397509386
MSV3drs397509386
GWAS Ctlgrs397509386
Max Magnitude0
ClinVar
Risk rs397509386(G;G)
Alt rs397509386(G;G)
Reference rs397509386(A;A)
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.42977740A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000043556.5,