FAM161A, FAM161 centrosomal protein A, 84140

N. diseases: 42; N. variants: 12
Disease: Autosomal recessive retinitis pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200691042
rs200691042
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
CUI: C0339526
Disease:
Autosomal recessive retinitis pigmentosa 		0.020 GeneticVariation BEFREE Homozygosity for the c.1309A>T, p.Arg437* variant in FAM161A is a relatively common cause of arRP. 26113502 2015
dbSNP: rs200691042
rs200691042
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
CUI: C0339526
Disease:
Autosomal recessive retinitis pigmentosa 		0.020 GeneticVariation BEFREE A founder mutation in FAM161A p.(Arg437*) underlies approximately 2% of arRP cases in the Dutch and Belgian populations. 26574802 2015