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: rs1567057019
rs1567057019
TICRR ; KIF7
1 1.000 0.080 15 89629123 splice acceptor variant C/G snv 0.700 1.000 4 2009 2015
dbSNP: rs146626238
rs146626238
KIF7
1 1.000 0.080 15 89631647 missense variant C/T snv 1.2E-04 5.6E-04 0.700 1.000 3 2011 2015
dbSNP: rs180758272
rs180758272
KIF7
3 0.882 0.080 15 89649809 missense variant C/T snv 1.1E-04 5.2E-04 0.700 1.000 3 2011 2015
dbSNP: rs202195179
rs202195179
TICRR ; KIF7
1 1.000 0.080 15 89629527 stop gained G/A;C;T snv 2.0E-05; 3.2E-05; 4.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs138410949
rs138410949
KIF7
2 0.925 0.120 15 89631625 missense variant T/C snv 1.6E-03 2.0E-03 0.700 1.000 1 2015 2015
dbSNP: rs1555424505
rs1555424505
KIF7
1 1.000 0.080 15 89645040 stop gained C/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1555424684
rs1555424684
KIF7
1 1.000 0.080 15 89646974 frameshift variant -/G delins 0.700 1.000 1 2018 2018
dbSNP: rs1555425036
rs1555425036
KIF7
1 1.000 0.080 15 89649842 inframe deletion ATGTAC/- delins 0.700 1.000 1 2018 2018
dbSNP: rs202229910
rs202229910
KIF7
1 1.000 0.080 15 89631689 stop gained G/A;C snv 1.2E-05; 1.1E-04 0.700 1.000 1 2015 2015
dbSNP: rs387907045
rs387907045
KIF7
1 1.000 0.080 15 89631605 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs774403667
rs774403667
KIF7
1 1.000 0.080 15 89633269 splice region variant G/C snv 1.2E-05 2.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs778139192
rs778139192
TICRR ; KIF7
14 0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 0.700 1.000 1 2015 2015
dbSNP: rs797045093
rs797045093
KIF7
1 1.000 0.080 15 89631662 stop gained C/A snv 5.9E-06 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1235928535
rs1235928535
KIF7
2 0.925 0.160 15 89652864 stop gained G/A snv 6.8E-06 7.0E-06 0.700 0
dbSNP: rs387907044
rs387907044
KIF7
1 1.000 0.080 15 89649810 stop gained G/A;C snv 6.4E-06 0.700 0
dbSNP: rs569323391
rs569323391
KIF7
1 1.000 0.080 15 89652774 stop gained G/A;C snv 7.0E-06 0.700 0
dbSNP: rs752248403
rs752248403
KIF7
2 0.925 0.080 15 89631709 frameshift variant GC/- del 6.5E-06 6.3E-05 0.700 0
dbSNP: rs758361736
rs758361736
KIF7
16 0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 0.700 0
dbSNP: rs797044463
rs797044463
KIF7
1 1.000 0.080 15 89649309 frameshift variant -/A delins 7.0E-05 0.700 0
dbSNP: rs797044464
rs797044464
KIF7
1 1.000 0.080 15 89649210 frameshift variant C/- delins 0.700 0
dbSNP: rs28933372
rs28933372
GLI3
5 0.827 0.120 7 41966273 missense variant C/G snv 0.010 1.000 1 2013 2013
dbSNP: rs886039282
rs886039282
TICRR ; KIF7
3 0.882 0.280 15 89630426 missense variant T/C snv 0.010 1.000 1 2012 2012