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rs397514044

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514044(A;A)
Make rs397514044(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position14130912
GeneTMEM43
is asnp
is mentioned by
dbSNPrs397514044
ebirs397514044
HLIrs397514044
Exacrs397514044
Varsomers397514044
Maprs397514044
PheGenIrs397514044
hapmaprs397514044
1000 genomesrs397514044
hgdprs397514044
ensemblrs397514044
gopubmedrs397514044
geneviewrs397514044
scholarrs397514044
googlers397514044
pharmgkbrs397514044
gwascentralrs397514044
openSNPrs397514044
23andMers397514044
23andMe allrs397514044
SNP Nexus

SNPshotrs397514044
SNPdbers397514044
MSV3drs397514044
GWAS Ctlgrs397514044
Max Magnitude0
ClinVar
Risk rs397514044(A;A)
Alt rs397514044(A;A)
Reference rs397514044(G;G)
Significance Pathogenic
Disease Emery-Dreifuss muscular dystrophy 7
Variation info
Gene TMEM43
CLNDBN Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Reversed 0
HGVS NC_000003.11:g.14172412G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033854.3,