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rs144811578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs144811578(A;G)
Make rs144811578(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position14130930
GeneTMEM43
is asnp
is mentioned by
dbSNPrs144811578
ebirs144811578
HLIrs144811578
Exacrs144811578
Varsomers144811578
Maprs144811578
PheGenIrs144811578
hapmaprs144811578
1000 genomesrs144811578
hgdprs144811578
ensemblrs144811578
gopubmedrs144811578
geneviewrs144811578
scholarrs144811578
googlers144811578
pharmgkbrs144811578
gwascentralrs144811578
openSNPrs144811578
23andMers144811578
23andMe allrs144811578
SNP Nexus

SNPshotrs144811578
SNPdbers144811578
MSV3drs144811578
GWAS Ctlgrs144811578
Max Magnitude0
ClinVar
Risk rs144811578(G;G)
Alt rs144811578(G;G)
Reference rs144811578(A;A)
Significance Pathogenic
Disease Emery-Dreifuss muscular dystrophy 7 not specified
Variation info
Gene TMEM43
CLNDBN Emery-Dreifuss muscular dystrophy 7, autosomal dominant not specified
Reversed 0
HGVS NC_000003.11:g.14172430A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033855.3, RCV000183950.2,