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: rs1555565774
rs1555565774
EFTUD2
16 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
dbSNP: rs1555740394
rs1555740394
PRR12
5 0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 0.700 0
dbSNP: rs1555740650
rs1555740650
PRR12
13 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
dbSNP: rs1555741826
rs1555741826
PRR12
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
6 1.000 0.040 20 49374625 missense variant C/T snv 0.700 0
dbSNP: rs1555928716
rs1555928716
RPS6KA3
7 0.925 X 20167669 stop gained G/A snv 0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
26 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
dbSNP: rs1559759089
rs1559759089
ATP6V1A
14 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs1562171209
rs1562171209
PHIP
9 0.851 0.160 6 79003821 missense variant T/C snv 0.700 0
dbSNP: rs1565091862
rs1565091862
KCNMA1 ; KCNMA1-AS1
4 0.925 0.160 10 76944829 missense variant T/C snv 0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
12 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
dbSNP: rs1568019012
rs1568019012
LAMA1
13 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
dbSNP: rs1569309484
rs1569309484
RLIM
13 0.807 0.200 X 74591586 missense variant A/G snv 0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
19 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
dbSNP: rs267606706
rs267606706
CBL
9 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs267608463
rs267608463
MECP2
5 0.925 0.120 X 154032206 splice donor variant C/A;T snv 0.700 0
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs312262690
rs312262690
ANTXR2
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
27 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs386834055
rs386834055
VPS13B
9 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0