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: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1131692229
rs1131692229
KIDINS220
11 0.851 0.120 2 8730956 frameshift variant GT/- delins 0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
7 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
dbSNP: rs1557036757
rs1557036757
HUWE1
7 0.925 0.240 X 53647375 missense variant G/A snv 0.700 0
dbSNP: rs199473457
rs199473457
KCNQ1
12 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0