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: rs1555429629
rs1555429629
RAD51
23 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
dbSNP: rs1554297905
rs1554297905
RALA
6 0.882 0.160 7 39686740 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1553544133
rs1553544133
SATB2
6 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0
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: rs1569525894
rs1569525894
SLC9A6
14 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
dbSNP: rs397517148
rs397517148
SOS1
27 0.776 0.200 2 39023128 missense variant C/T snv 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: rs199469465
rs199469465
SRCAP
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
29 0.742 0.280 6 33438873 stop gained 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: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1560092224
rs1560092224
ZBTB20
5 0.925 0.040 3 114339276 missense variant T/A snv 0.700 0