Source: ALL

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: rs1568069621
rs1568069621
PIEZO2
0.925 0.080 18 10797517 stop gained G/A snv
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 2 2017 2020
dbSNP: rs117134265
rs117134265
ROR2
1.000 0.080 9 91724819 missense variant C/G;T snv 4.0E-06; 3.4E-04
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs145631389
rs145631389
ROR2
1.000 0.080 9 91733251 missense variant T/A;C snv 1.7E-04
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs200546266
rs200546266
RYR1
1.000 0.080 19 38477821 missense variant C/A;T snv 4.0E-06; 1.4E-04
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs267607038
rs267607038
SETBP1
0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs375218091
rs375218091
RAPSN
1.000 0.080 11 47448071 missense variant C/A;T snv 1.6E-05; 8.0E-06
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs552094593
rs552094593
GBE1
1.000 0.080 3 81537021 missense variant G/A;T snv 8.9E-06
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs587777450
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs587784379
rs587784379
RYR1
1.000 0.080 19 38516111 missense variant C/G snv 2.8E-05
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs750803388
rs750803388
GLDN
1.000 0.080 15 51404526 missense variant C/A snv 2.4E-05 2.8E-05
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs786205271
rs786205271
SCN5A
1.000 0.080 3 38551159 missense variant G/A;C snv 4.0E-06
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs886041709
rs886041709
ASPM
1.000 0.080 1 197125045 splice donor variant C/G snv
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs387907196
rs387907196
EXOSC3
0.807 0.080 9 37784953 missense variant C/G snv 2.0E-05
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 0
dbSNP: rs730882230
rs730882230
FBN2
1.000 0.080 5 128408688 missense variant C/T snv
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 0
dbSNP: rs797045412
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 0