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: rs132630297
rs132630297
PHF6
6 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
dbSNP: rs886041095
rs886041095
GRIN2B
11 0.827 0.160 12 13571930 missense variant C/T snv 0.700 0
dbSNP: rs876661151
rs876661151
GRIN2B ; LOC105369668
6 0.925 0.040 12 13608611 missense variant C/A;T snv 0.700 0
dbSNP: rs879255531
rs879255531
EHMT1
5 0.882 0.400 9 137728379 stop gained C/T snv 0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs886041093
rs886041093
EHMT1
7 0.827 0.280 9 137815998 missense variant G/A snv 0.700 0
dbSNP: rs886041097
rs886041097
NAA15
9 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
dbSNP: rs587783000
rs587783000
PURA
5 0.925 0.080 5 140114444 inframe deletion TCG/- del 0.700 0
dbSNP: rs587782999
rs587782999
PURA
6 0.882 0.080 5 140114446 missense variant G/A;C snv 0.700 0
dbSNP: rs587782994
rs587782994
PURA
6 0.882 0.080 5 140114470 missense variant A/G snv 0.700 0
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs587782992
rs587782992
PURA
5 0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins 0.700 0
dbSNP: rs587782996
rs587782996
PURA
5 0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06 0.700 0
dbSNP: rs587782998
rs587782998
PURA
5 0.882 0.080 5 140114651 missense variant T/A snv 0.700 0
dbSNP: rs587782993
rs587782993
PURA
6 0.882 0.080 5 140114737 stop gained C/T snv 0.700 0
dbSNP: rs587783001
rs587783001
PURA
6 0.882 0.080 5 140114777 missense variant G/C snv 0.700 0
dbSNP: rs587782997
rs587782997
PURA
5 0.925 0.080 5 140114964 stop gained C/G snv 0.700 0
dbSNP: rs587782991
rs587782991
PURA
6 0.882 0.080 5 140114991 inframe deletion TCT/- delins 0.700 0
dbSNP: rs758865880
rs758865880
KYNU
8 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379
KYNU
8 0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs1554642022
rs1554642022
PUF60 ; SCRIB
8 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
11 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1554904772
rs1554904772
BRSK2
4 0.882 0.280 11 1443490 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1135402760
rs1135402760
BRSK2
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0