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: rs1555648564
rs1555648564
1.000 17 60656807 frameshift variant TG/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 11 2008 2017
dbSNP: rs1555648564
rs1555648564
1.000 17 60656807 frameshift variant TG/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 11 2008 2017
dbSNP: rs747947002
rs747947002
0.925 17 60656795 frameshift variant AA/-;A;AAA delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 2008 2017
dbSNP: rs747947002
rs747947002
0.925 17 60656795 frameshift variant AA/-;A;AAA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 11 2008 2017
dbSNP: rs7214509
rs7214509
17 60662309 intron variant C/T snv 0.14
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
0.700 1.000 1 2019 2019
dbSNP: rs1064797098
rs1064797098
1.000 17 60663002 frameshift variant -/G delins
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
0.700 0
dbSNP: rs1064797099
rs1064797099
1.000 17 60663015 stop gained G/A snv 7.0E-06
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
0.700 0
dbSNP: rs1064797100
rs1064797100
1.000 17 60656829 frameshift variant -/C delins
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
0.700 0
dbSNP: rs1555649009
rs1555649009
1.000 17 60663010 frameshift variant C/- delins
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
0.700 0
dbSNP: rs1567977657
rs1567977657
1.000 17 60656827 frameshift variant ACCAC/- delins
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
0.700 0
dbSNP: rs189669693
rs189669693
1.000 17 60656802 stop gained T/A;C snv 4.0E-06
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
0.700 0
dbSNP: rs747947002
rs747947002
0.925 17 60656795 frameshift variant AA/-;A;AAA delins
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
0.700 0
dbSNP: rs765769406
rs765769406
1.000 17 60663448 stop gained C/T snv 2.1E-05
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
0.700 0