Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
11 0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06 0.700 0
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2014 2014
Dysmorphism
CUI: C1737329
Disease: Dysmorphism
16 0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2014 2014
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2014 2014
Hypophosphatasia
CUI: C0020630
Disease: Hypophosphatasia
29 0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2014 2014