EFCAB6, EF-hand calcium binding domain 6, 64800

N. diseases: 6; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12627753
rs12627753 		22 43597992 intron variant G/A snv 8.3E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs137156
rs137156 		22 43550596 intron variant C/T snv 0.11
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs200755477
rs200755477 		0.925 0.120 22 43528870 missense variant G/A snv 1.2E-04 1.0E-04
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs200755477
rs200755477 		0.925 0.120 22 43528870 missense variant G/A snv 1.2E-04 1.0E-04
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs200755477
rs200755477 		0.925 0.120 22 43528870 missense variant G/A snv 1.2E-04 1.0E-04
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019