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rs397514544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs397514544(GA;TT)
Make rs397514544(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome12
Position63808779
GeneTMEM5
is asnp
is mentioned by
dbSNPrs397514544
ebirs397514544
HLIrs397514544
Exacrs397514544
Varsomers397514544
Maprs397514544
PheGenIrs397514544
hapmaprs397514544
1000 genomesrs397514544
hgdprs397514544
ensemblrs397514544
gopubmedrs397514544
geneviewrs397514544
scholarrs397514544
googlers397514544
pharmgkbrs397514544
gwascentralrs397514544
openSNPrs397514544
23andMers397514544
23andMe allrs397514544
SNP Nexus

SNPshotrs397514544
SNPdbers397514544
MSV3drs397514544
GWAS Ctlgrs397514544
Max Magnitude0
ClinVar
Risk rs397514544(TT;TT)
Alt rs397514544(TT;TT)
Reference rs397514544(GA;GA)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene TMEM5 TMEM5-AS1
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Reversed 0
HGVS NC_000012.11:g.64202559_64202560delGAinsTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000032805.3,