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rs397514696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514696(-;-)
Make rs397514696(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position63780099
GeneTMEM5
is asnp
is mentioned by
dbSNPrs397514696
ebirs397514696
HLIrs397514696
Exacrs397514696
Varsomers397514696
Maprs397514696
PheGenIrs397514696
hapmaprs397514696
1000 genomesrs397514696
hgdprs397514696
ensemblrs397514696
gopubmedrs397514696
geneviewrs397514696
scholarrs397514696
googlers397514696
pharmgkbrs397514696
gwascentralrs397514696
openSNPrs397514696
23andMers397514696
23andMe allrs397514696
SNP Nexus

SNPshotrs397514696
SNPdbers397514696
MSV3drs397514696
GWAS Ctlgrs397514696
Max Magnitude0
ClinVar
Risk rs397514696(;)
Alt rs397514696(;)
Reference rs397514696(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.64173879delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000043552.3,