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: rs1567860891
rs1567860891 		1.000 17 7903038 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs754919272
rs754919272 		1.000 17 7903043 missense variant C/A;T snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs754919272
rs754919272 		1.000 17 7903043 missense variant C/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1567860919
rs1567860919 		1.000 17 7903048 missense variant A/G snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567860919
rs1567860919 		1.000 17 7903048 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1567861468
rs1567861468 		1.000 17 7903281 missense variant C/T snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 2 2018 2019
dbSNP: rs1567861468
rs1567861468 		1.000 17 7903281 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1567861489
rs1567861489 		1.000 17 7903288 missense variant A/G snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567861489
rs1567861489 		1.000 17 7903288 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1567861501
rs1567861501 		1.000 17 7903291 missense variant G/A snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567861501
rs1567861501 		1.000 17 7903291 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1567861894
rs1567861894 		1.000 17 7903483 missense variant T/C snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567861894
rs1567861894 		1.000 17 7903483 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1567863732
rs1567863732 		1.000 17 7904572 missense variant G/A snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567863732
rs1567863732 		1.000 17 7904572 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1567864750
rs1567864750 		17 7905098 splice acceptor variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs9899375
rs9899375 		1.000 0.080 17 7908297 intron variant C/T snv 8.1E-03
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs9899375
rs9899375 		1.000 0.080 17 7908297 intron variant C/T snv 8.1E-03
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1567877108
rs1567877108 		1.000 17 7910479 missense variant G/T snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567877108
rs1567877108 		1.000 17 7910479 missense variant G/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1567878511
rs1567878511 		17 7910893 frameshift variant -/GAAC delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0