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: rs1060499738
rs1060499738
ACTL6B
2 1.000 7 100647014 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs34002892
rs34002892
GNPTAB
8 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 3 2006 2014
dbSNP: rs1060499739
rs1060499739
CEP97
2 1.000 3 101757754 missense variant A/G snv 0.700 0
dbSNP: rs879255580
rs879255580
CLCN4
1 X 10206437 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs879255581
rs879255581
CLCN4
1 X 10206464 missense variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs879255585
rs879255585
CLCN4
1 X 10206756 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs879255590
rs879255590
CLCN4
1 X 10208595 splice region variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs879255582
rs879255582
CLCN4
1 X 10213705 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs587777161
rs587777161
CLCN4
2 1.000 X 10213734 missense variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs879255583
rs879255583
CLCN4
1 X 10213768 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255586
rs879255586
CLCN4
1 X 10213979 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs879255584
rs879255584
CLCN4
1 X 10220837 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1060499740
rs1060499740
CINP
3 14 102348559 stop lost A/C snv 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs1562927768
rs1562927768
KMT2E
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs606231450
rs606231450
BRF1
7 0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs373957300
rs373957300
BRF1
7 0.882 0.160 14 105228832 missense variant G/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs606231416
rs606231416
BRF1
7 0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06 0.700 0
dbSNP: rs370270828
rs370270828
BRF1
7 0.882 0.160 14 105241292 missense variant G/A snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs1555408401
rs1555408401
PACS2
2 1.000 14 105368112 missense variant G/A snv 0.700 0
dbSNP: rs1554823375
rs1554823375
WDR37
8 0.851 0.160 10 1080454 missense variant C/T snv 0.700 0
dbSNP: rs561330579
rs561330579
CELSR2
2 1.000 1 109258951 missense variant C/G;T snv 7.3E-05 0.700 0
dbSNP: rs1562159088
rs1562159088
WASF1
2 1.000 0.040 6 110100644 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1562159562
rs1562159562
WASF1
1 6 110101594 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1562159599
rs1562159599
WASF1
1 6 110101628 frameshift variant G/CCTGGC delins 0.700 1.000 1 2018 2018