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: rs886041125
rs886041125
ANKRD11
12 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
11 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
dbSNP: rs1559155954
rs1559155954
OBSL1
9 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs786200952
rs786200952
KAT6A
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs1553544133
rs1553544133
SATB2
6 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0
dbSNP: rs879253753
rs879253753
ANKRD11
19 0.851 0.280 16 89280526 frameshift variant -/T delins 0.700 0
dbSNP: rs1334099693
rs1334099693
SOX4
11 0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 0.700 1.000 1 2019 2019
dbSNP: rs1554297905
rs1554297905
RALA
6 0.882 0.160 7 39686740 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1567368243
rs1567368243
SIN3A
9 0.882 0.040 15 75411651 frameshift variant -/T delins 0.700 1.000 1 2019 2019
dbSNP: rs1555380716
rs1555380716
SLC12A6
5 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0
dbSNP: rs1556009247
rs1556009247
HDAC8
7 0.882 X 72490973 missense variant A/C;T snv 0.700 0
dbSNP: rs1561964103
rs1561964103
TFAP2B
7 0.882 0.080 6 50836108 frameshift variant G/- delins 0.700 0
dbSNP: rs1555174708
rs1555174708
CCDC65
4 0.925 12 48916993 frameshift variant A/- del 0.700 0
dbSNP: rs1560092224
rs1560092224
ZBTB20
5 0.925 0.040 3 114339276 missense variant T/A snv 0.700 0