Source: CURATED ×
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: rs1057516038
rs1057516038
KIAA0586
5 0.925 14 58444158 stop gained C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1553655558
rs1553655558
TRIP12
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs1554389088
rs1554389088
CAMK2B
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 0
dbSNP: rs1555783467
rs1555783467
SLC52A3
6 0.882 0.120 20 761120 missense variant C/T snv 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
40 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs794727931
rs794727931
ALG8
19 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
dbSNP: rs879255368
rs879255368
ATP1A3
5 19 41984953 missense variant C/G;T snv 0.700 0