Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771551765
rs771551765
TMEM67
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		A 0.700 GeneticVariation CLINVAR Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. 27457812

2017
dbSNP: rs771551765
rs771551765
TMEM67
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		A 0.700 GeneticVariation CLINVAR Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. 10567047

1999