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: rs1114167423
rs1114167423
APTX
6 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1057518946
rs1057518946
GJB1
8 0.882 0.080 X 71223816 missense variant G/T snv 0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs1568019012
rs1568019012
LAMA1
13 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
dbSNP: rs28934907
rs28934907
MECP2
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs727502818
rs727502818
KCNC1
26 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0