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: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.700 1.000 4 2011 2016
dbSNP: rs1567499068
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.700 1.000 1 2019 2019
dbSNP: rs1057515576
rs1057515576
ARL6
0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.700 0
dbSNP: rs1057518918
rs1057518918
ARID1B
0.882 0.160 6 157184329 frameshift variant C/- delins
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.700 0
dbSNP: rs1131691299
rs1131691299
DDX3X
0.882 0.160 X 41341587 frameshift variant C/- del
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.700 0
dbSNP: rs2230288
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.700 0
dbSNP: rs752078407
rs752078407
PANK2
1.000 0.080 20 3910806 missense variant A/T snv 6.4E-05 3.5E-05
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.010 1.000 1 2015 2015