Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77238412
rs77238412
ALB
CUI: C0878666
Disease: Analbuminemia
Analbuminemia
T 0.700 CausalMutation CLINVAR Analbuminemia in a Swiss family is caused by a C --> T transition at nucleotide 4446 of the albumin gene. 15996651

2005

dbSNP: rs77238412
rs77238412
ALB
CUI: C0878666
Disease: Analbuminemia
Analbuminemia
T 0.700 CausalMutation CLINVAR Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review. 15300429

2004

dbSNP: rs77238412
rs77238412
ALB
CUI: C0878666
Disease: Analbuminemia
Analbuminemia
T 0.700 CausalMutation CLINVAR Analbuminemia: three cases resulting from different point mutations in the albumin gene. 7937781

1994

dbSNP: rs77335374
rs77335374
ALB
CUI: C0878666
Disease: Analbuminemia
Analbuminemia
G 0.700 CausalMutation CLINVAR

dbSNP: rs77449454
rs77449454
ALB
CUI: C0878666
Disease: Analbuminemia
Analbuminemia
GA 0.700 CausalMutation CLINVAR