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: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
dbSNP: rs376103091
rs376103091
EARS2
10 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs387907260
rs387907260
KCTD7
22 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
23 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
dbSNP: rs77078070
rs77078070
KLHL7
26 0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs12720458
rs12720458
KCNQ1
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs199564797
rs199564797
SELENON
25 0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs780631499
rs780631499
AGTPBP1
23 0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 0.700 0
dbSNP: rs727503057
rs727503057
FBN1
16 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs387907144
rs387907144
ARID1B
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs1114167445
rs1114167445
SPTBN4
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1269636220
rs1269636220
WDR11
5 0.851 0.280 10 120865109 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1306416169
rs1306416169
NSMF
5 0.851 0.280 9 137453808 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1487309678
rs1487309678
SEMA3A
5 0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1555649483
rs1555649483
BPTF
12 0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del 0.700 1.000 1 2017 2017
dbSNP: rs1557043622
rs1557043622
SLC35A2
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694
TFR2 ; ACTL6B
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
16 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs397515445
rs397515445
FGFR1
7 0.807 0.280 8 38414263 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs63750687
rs63750687
PSEN1
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057518812
rs1057518812
FBN1
6 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
dbSNP: rs1057518879
rs1057518879
PLOD1
19 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
dbSNP: rs1057518883
rs1057518883
FBN1
7 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0