Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1567368243
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C0575802
Disease: Small hand
Small hand 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C1836047
Disease: Long face
Long face 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C4540398
Disease: Thick ear helices
Thick ear helices 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 1 2019 2019