Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777623
rs587777623
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 4 2014 2017
dbSNP: rs76216585
rs76216585
0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 3 2014 2014
dbSNP: rs1064795104
rs1064795104
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 2 2013 2014
dbSNP: rs1064795945
rs1064795945
1.000 0.120 1 197102332 frameshift variant AAGT/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 2 2002 2009
dbSNP: rs1064796738
rs1064796738
1.000 0.240 10 92606655 stop gained C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 2 2014 2014
dbSNP: rs1034395178
rs1034395178
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2018 2018
dbSNP: rs1057516034
rs1057516034
0.925 0.120 5 37052453 stop gained C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2016 2016
dbSNP: rs1057516037
rs1057516037
0.925 X 72464626 protein altering variant TGGAG/AC delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2016 2016
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2017 2017
dbSNP: rs1554297905
rs1554297905
0.882 0.160 7 39686740 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2018 2018
dbSNP: rs1554389088
rs1554389088
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2017 2017
dbSNP: rs1555649483
rs1555649483
0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2017 2017
dbSNP: rs1555652383
rs1555652383
0.807 0.160 17 67912720 frameshift variant TG/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2017 2017
dbSNP: rs1555789140
rs1555789140
0.882 0.120 20 17970217 frameshift variant C/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2017 2017
dbSNP: rs1563686762
rs1563686762
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2019 2019
dbSNP: rs724159949
rs724159949
0.827 0.240 21 37486563 stop gained C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2015 2015
dbSNP: rs767961672
rs767961672
0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2016 2016
dbSNP: rs776679653
rs776679653
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2017 2017
dbSNP: rs777593389
rs777593389
1.000 0.320 8 99156693 stop gained C/T snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2016 2016
dbSNP: rs786200952
rs786200952
0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2015 2015
dbSNP: rs796051881
rs796051881
0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2015 2015
dbSNP: rs797044519
rs797044519
0.925 21 37478285 stop gained C/A;G;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2015 2015
dbSNP: rs797044521
rs797044521
0.925 21 37480768 frameshift variant A/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
0.925 21 37496119 frameshift variant AGAT/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2015 2015
dbSNP: rs797044523
rs797044523
0.882 21 37480756 frameshift variant -/A delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2015 2015