Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167296
rs1114167296
TMEM47
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167296
rs1114167296
TMEM47
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167296
rs1114167296
TMEM47
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167296
rs1114167296
TMEM47
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167296
rs1114167296
TMEM47
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167296
rs1114167296
TMEM47
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		G 0.700 GeneticVariation CLINVAR