CLCN4, chloride voltage-gated channel 4, 1183

N. diseases: 114; N. variants: 14
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: rs587777161
rs587777161 		1.000 X 10213734 missense variant G/A;C snv
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.800 1.000 2 2013 2016
dbSNP: rs587777161
rs587777161 		1.000 X 10213734 missense variant G/A;C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2018 2018
dbSNP: rs879255580
rs879255580 		X 10206437 missense variant T/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2018 2018
dbSNP: rs879255581
rs879255581 		X 10206464 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2018 2018
dbSNP: rs879255582
rs879255582 		X 10213705 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2018 2018
dbSNP: rs879255583
rs879255583 		X 10213768 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2018 2018
dbSNP: rs879255584
rs879255584 		X 10220837 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2018 2018
dbSNP: rs879255585
rs879255585 		X 10206756 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2018 2018
dbSNP: rs879255586
rs879255586 		X 10213979 frameshift variant -/A delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2018 2018
dbSNP: rs879255590
rs879255590 		X 10208595 splice region variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2018 2018
dbSNP: rs1555976973
rs1555976973 		1.000 X 10212653 missense variant G/A snv
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.700 0
dbSNP: rs1569226551
rs1569226551 		1.000 X 10187602 missense variant G/A snv
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.700 0
dbSNP: rs1569230006
rs1569230006 		1.000 X 10206463 missense variant C/G snv
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.700 0
dbSNP: rs1569231897
rs1569231897 		1.000 X 10213710 missense variant G/A snv
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.700 0
dbSNP: rs1569233549
rs1569233549 		1.000 X 10220876 missense variant G/C snv
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.700 0