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: rs544281438
rs544281438
1.000 0.200 16 88716650 missense variant G/A snv 7.2E-05 5.6E-05
CUI: C0272051
Disease: Xerocytosis
Xerocytosis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs749288233
rs749288233
0.925 0.200 16 88715708 missense variant C/T snv 6.4E-06
CUI: C0272051
Disease: Xerocytosis
Xerocytosis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013