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

rs397514546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514546(-;-)
Make rs397514546(-;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position63781128
GeneTMEM5
is asnp
is mentioned by
dbSNPrs397514546
ebirs397514546
HLIrs397514546
Exacrs397514546
Varsomers397514546
Maprs397514546
PheGenIrs397514546
hapmaprs397514546
1000 genomesrs397514546
hgdprs397514546
ensemblrs397514546
gopubmedrs397514546
geneviewrs397514546
scholarrs397514546
googlers397514546
pharmgkbrs397514546
gwascentralrs397514546
openSNPrs397514546
23andMers397514546
23andMe allrs397514546
SNP Nexus

SNPshotrs397514546
SNPdbers397514546
MSV3drs397514546
GWAS Ctlgrs397514546
Max Magnitude0
ClinVar
Risk rs397514546(;)
Alt rs397514546(;)
Reference rs397514546(A;A)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene TMEM5
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Reversed 0
HGVS NC_000012.11:g.64174908delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000032807.3,