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rs397514695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514695(C;T)
Make rs397514695(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position63808778
GeneTMEM5
is asnp
is mentioned by
dbSNPrs397514695
ebirs397514695
HLIrs397514695
Exacrs397514695
Varsomers397514695
Maprs397514695
PheGenIrs397514695
hapmaprs397514695
1000 genomesrs397514695
hgdprs397514695
ensemblrs397514695
gopubmedrs397514695
geneviewrs397514695
scholarrs397514695
googlers397514695
pharmgkbrs397514695
gwascentralrs397514695
openSNPrs397514695
23andMers397514695
23andMe allrs397514695
SNP Nexus

SNPshotrs397514695
SNPdbers397514695
MSV3drs397514695
GWAS Ctlgrs397514695
Max Magnitude0
ClinVar
Risk rs397514695(A,T;A,T)
Alt rs397514695(A,T;A,T)
Reference rs397514695(C;C)
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.64202558C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043551.3,