UPF1, UPF1 RNA helicase and ATPase, 5976

N. diseases: 38; 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: rs374016704
rs374016704
0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2007 2017
dbSNP: rs374016704
rs374016704
0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 2 2016 2017
dbSNP: rs374016704
rs374016704
0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs753643819
rs753643819
1.000 0.120 19 18868624 inframe deletion CAT/- del
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs768027510
rs768027510
1.000 0.120 19 18868666 frameshift variant AGAA/- delins 5.4E-06; 6.5E-05 4.9E-05
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0