Source: CLINVAR

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: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs1064795760
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs12720458
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs137854539
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs137854889
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs1555462347
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs190521996
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs200661329
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs587783772
rs587783772
MTM1
0.776 0.200 X 150659665 missense variant G/A;T snv
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs61750420
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs80338701
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0