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rs397514543

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514543(-;-)
Make rs397514543(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position63805285
GeneTMEM5
is asnp
is mentioned by
dbSNPrs397514543
ebirs397514543
HLIrs397514543
Exacrs397514543
Varsomers397514543
Maprs397514543
PheGenIrs397514543
hapmaprs397514543
1000 genomesrs397514543
hgdprs397514543
ensemblrs397514543
gopubmedrs397514543
geneviewrs397514543
scholarrs397514543
googlers397514543
pharmgkbrs397514543
gwascentralrs397514543
openSNPrs397514543
23andMers397514543
23andMe allrs397514543
SNP Nexus

SNPshotrs397514543
SNPdbers397514543
MSV3drs397514543
GWAS Ctlgrs397514543
Max Magnitude0
ClinVar
Risk rs397514543(;)
Alt rs397514543(;)
Reference rs397514543(G;G)
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.64199065delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000032803.3,