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: rs104893851
rs104893851
MMAA
6 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 0.700 0
dbSNP: rs1057518588
rs1057518588
IGHMBP2
6 0.851 0.160 11 68908632 splice donor variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1057518805
rs1057518805
SYT2 ; LOC105371686
2 1 202596928 inframe deletion ATAGTC/- delins 0.700 0
dbSNP: rs1273330603
rs1273330603
GJB2
3 1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05 0.700 0
dbSNP: rs1563221666
rs1563221666
SFTPC
14 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
dbSNP: rs1565569158
rs1565569158
ATN1
4 12 6939148 missense variant A/G snv 0.700 0
dbSNP: rs761964407
rs761964407
SERAC1
4 1.000 6 158114826 frameshift variant -/ATAG delins 1.5E-04 1.5E-04 0.700 0
dbSNP: rs773223403
rs773223403
ABCA3
3 1.000 0.080 16 2319842 splice acceptor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs863224880
rs863224880
IGHMBP2
7 0.925 0.160 11 68906074 stop gained G/A snv 0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
37 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs118203918
rs118203918
CILK1
6 0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121912823
rs121912823
CHAT
6 0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2070699
rs2070699
EDN1
14 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs3088308
rs3088308
SFTPD
2 1.000 0.040 10 79938112 missense variant A/T snv 9.9E-02 6.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs721917
rs721917
SFTPD
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.010 1.000 1 2014 2014