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: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.800 1.000 2 2016 2017
dbSNP: rs878853160
rs878853160
0.882 0.120 7 40046007 missense variant A/G snv
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.800 1.000 2 2016 2017
dbSNP: rs1057519632
rs1057519632
1.000 7 39999467 missense variant G/A snv
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.700 0
dbSNP: rs1057519633
rs1057519633
1.000 7 39999458 missense variant G/C snv
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.700 0
dbSNP: rs1057519634
rs1057519634
1.000 7 40001930 missense variant G/A snv
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.700 0
dbSNP: rs1064795731
rs1064795731
1.000 7 40001878 missense variant A/G snv
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.700 0
dbSNP: rs1554317002
rs1554317002
0.724 0.440 7 39950821 frameshift variant C/- delins
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.700 0
dbSNP: rs1562722163
rs1562722163
1.000 7 40001924 missense variant C/A snv
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.700 0