Source: CLINVAR

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: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs755246809
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1057521721
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 1.000 1 2017 2017
dbSNP: rs1554944271
rs1554944271
DEAF1
0.851 0.240 11 686925 missense variant C/G snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 1.000 1 2017 2017
dbSNP: rs1060499733
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1562171209
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs397507562
rs397507562
GNPTAB
0.851 0.240 12 101757311 splice acceptor variant C/G;T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs773685207
rs773685207
MED13
0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1380822792
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1564421528
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs777323132
rs777323132
CAPN3
0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1057521223
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0