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: rs346532
rs346532
19 43744726 intron variant A/G snv 0.25 0.33
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs869312741
rs869312741
0.882 0.080 19 43747509 frameshift variant GG/- delins
Abnormality of cardiovascular system morphology
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs869312741
rs869312741
0.882 0.080 19 43747509 frameshift variant GG/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 1.000 1 2016 2016
dbSNP: rs869312741
rs869312741
0.882 0.080 19 43747509 frameshift variant GG/- delins
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia
0.700 1.000 1 2016 2016
dbSNP: rs869312741
rs869312741
0.882 0.080 19 43747509 frameshift variant GG/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 1.000 1 2016 2016
dbSNP: rs869312741
rs869312741
0.882 0.080 19 43747509 frameshift variant GG/- delins
HEART AND BRAIN MALFORMATION SYNDROME
0.700 0
dbSNP: rs869312742
rs869312742
0.882 0.080 19 43744768 splice region variant T/C snv
Abnormality of cardiovascular system morphology
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs869312742
rs869312742
0.882 0.080 19 43744768 splice region variant T/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 1.000 1 2016 2016
dbSNP: rs869312742
rs869312742
0.882 0.080 19 43744768 splice region variant T/C snv
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia
0.700 1.000 1 2016 2016
dbSNP: rs869312742
rs869312742
0.882 0.080 19 43744768 splice region variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 1.000 1 2016 2016
dbSNP: rs869312742
rs869312742
0.882 0.080 19 43744768 splice region variant T/C snv
HEART AND BRAIN MALFORMATION SYNDROME
0.700 0
dbSNP: rs61387190
rs61387190
19 43756777 upstream gene variant C/A;T snv
RDW - Red blood cell distribution width result
0.700 1.000 1 2019 2019
dbSNP: rs61387190
rs61387190
19 43756777 upstream gene variant C/A;T snv
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs61387190
rs61387190
19 43756777 upstream gene variant C/A;T snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2016 2016