Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516037
rs1057516037
HDAC8
4 0.925 X 72464626 protein altering variant TGGAG/AC delins 0.700 1.000 1 2016 2016
dbSNP: rs797044519
rs797044519
DYRK1A
9 0.925 21 37478285 stop gained C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044520
rs797044520
DYRK1A
6 0.925 21 37505442 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044521
rs797044521
DYRK1A ; LOC105372797
8 0.925 21 37480768 frameshift variant A/- delins 0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
DYRK1A
9 0.925 21 37496119 frameshift variant AGAT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs797044523
rs797044523
DYRK1A ; LOC105372797
9 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs797044524
rs797044524
DYRK1A ; LOC105372797
9 0.925 21 37486513 missense variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044525
rs797044525
DYRK1A ; LOC105372797
9 0.925 21 37490244 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs797044526
rs797044526
DYRK1A ; LOC105372797
7 0.925 21 37490393 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057518834
rs1057518834
DMD
9 X 32849737 frameshift variant C/- delins 0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
8 0.882 X 110264571 stop gained G/A snv 0.700 0
dbSNP: rs1158061584
rs1158061584
N4BP2L2
1 13 32443086 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs120074160
rs120074160
SBDS
7 0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 0.700 0
dbSNP: rs1230432769
rs1230432769
KCND1 ; OTUD5
1 X 48962751 missense variant G/A snv 2.9E-05 0.700 0
dbSNP: rs1259852690
rs1259852690
FBRS
1 16 30669598 missense variant C/G snv 4.2E-06 2.8E-05 0.700 0
dbSNP: rs1297383239
rs1297383239
POLR2E
1 19 1091909 splice acceptor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1333906033
rs1333906033
ZBED4 ; ALG12
1 22 49883834 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1363884891
rs1363884891
PSMG2 ; CEP76
1 18 12673471 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs141844660
rs141844660
USP45 ; TSTD3
1 6 99443648 stop gained C/A snv 1.3E-04 1.2E-04 0.700 0
dbSNP: rs1430282035
rs1430282035
MYH7B
1 20 34996388 missense variant G/A snv 8.3E-06 0.700 0
dbSNP: rs143130309
rs143130309
IFT81
1 12 110163027 missense variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs1441510334
rs1441510334
FGF18
1 5 171436234 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs144709443
rs144709443
UBR4
1 1 19155051 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1456887132
rs1456887132
PHF20
1 20 35869519 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1469540056
rs1469540056
LZTR1
1 22 20982433 missense variant G/C;T snv 5.1E-06 0.700 0