KIAA1109, KIAA1109, 84162

N. diseases: 86; N. variants: 30
Disease: ALKURAYA-KUCINSKAS SYNDROME ×
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: rs1554025656
rs1554025656 		1.000 4 122249571 missense variant G/A snv
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.800 1.000 2 2015 2018
dbSNP: rs1554059454
rs1554059454 		1.000 4 122309365 missense variant G/C snv
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.800 1.000 2 2015 2018
dbSNP: rs1051597475
rs1051597475 		1.000 4 122226815 missense variant C/T snv
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.800 0
dbSNP: rs770791100
rs770791100 		1.000 4 122239668 missense variant A/G snv 3.2E-05 5.6E-05
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.800 0
dbSNP: rs368227278
rs368227278 		1.000 4 122243045 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.700 1.000 2 2015 2018
dbSNP: rs1263871665
rs1263871665 		1.000 4 122250524 missense variant G/A snv 1.2E-05
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.700 0
dbSNP: rs730882245
rs730882245 		0.827 0.160 4 122207168 stop gained T/A snv
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.700 0
dbSNP: rs775516790
rs775516790 		1.000 4 122238125 frameshift variant A/- delins 4.0E-06 7.0E-06
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.700 0