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.
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
2 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.800 0
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Broad neck
CUI: C1853638
Disease: Broad neck
10 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
282 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Congenital absence of thymus
CUI: C0685894
Disease: Congenital absence of thymus
2 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Congenital Camptodactyly
CUI: C0685409
Disease: Congenital Camptodactyly
10 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Congenital fusion of ribs
CUI: C0265695
Disease: Congenital fusion of ribs
2 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Cupped ears (finding)
CUI: C1845447
Disease: Cupped ears (finding)
7 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Decreased muscle mass
CUI: C1837108
Disease: Decreased muscle mass
12 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Depressed nasal tip
CUI: C1859717
Disease: Depressed nasal tip
3 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Down-sloping shoulders
CUI: C1856872
Disease: Down-sloping shoulders
4 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Ectopic pupil
CUI: C0271135
Disease: Ectopic pupil
1 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Fair hair
CUI: C1849221
Disease: Fair hair
5 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Klippel-Feil Syndrome
CUI: C0022738
Disease: Klippel-Feil Syndrome
5 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Long palpebral fissure
CUI: C1849340
Disease: Long palpebral fissure
10 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
11 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Mild global developmental delay
CUI: C4012968
Disease: Mild global developmental delay
13 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0