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: rs121434530
rs121434530
1.000 0.120 22 42061040 missense variant G/A snv 4.0E-06
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 1994 2001
dbSNP: rs121434533
rs121434533
1.000 0.120 22 42061039 missense variant C/T snv 6.8E-05 3.5E-05
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 1994 2001
dbSNP: rs121434529
rs121434529
0.925 0.120 22 42061052 missense variant C/T snv 2.5E-03 2.2E-03
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121434531
rs121434531
1.000 0.120 22 42066730 stop gained C/A;G snv 4.4E-06
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0