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: rs1568069621
rs1568069621
PIEZO2
3 0.925 0.080 18 10797517 stop gained G/A snv 0.700 1.000 2 2017 2020
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519320
rs1057519320
FBN1
7 0.807 0.160 15 48444574 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519321
rs1057519321
FBN2
7 0.807 0.160 5 128349391 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121434589
rs121434589
MYH2 ; MYHAS
8 0.851 0.200 17 10535137 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1558005340
rs1558005340
ATP1A2
4 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
4 0.851 0.280 1 160135284 frameshift variant GT/- delins 0.700 1.000 1 2020 2020
dbSNP: rs587777450
rs587777450
PIEZO2
9 0.790 0.320 18 10671729 missense variant C/T snv 0.700 1.000 1 2020 2020
dbSNP: rs587784379
rs587784379
RYR1
2 1.000 0.080 19 38516111 missense variant C/G snv 2.8E-05 0.700 1.000 1 2020 2020
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs786201003
rs786201003
NALCN
3 0.925 0.080 13 101083752 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs886041709
rs886041709
ASPM
2 1.000 0.080 1 197125045 splice donor variant C/G snv 0.700 1.000 1 2020 2020
dbSNP: rs917411291
rs917411291
GZMM
9 0.851 0.360 19 544072 start lost A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1057518887
rs1057518887
SEPSECS
7 0.925 0.160 4 25156851 splice region variant C/T snv 0.700 0
dbSNP: rs1064795760
rs1064795760
BICD2
14 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
dbSNP: rs1555642784
rs1555642784
CNTNAP1
5 0.851 0.160 17 42688979 frameshift variant -/C delins 0.700 0
dbSNP: rs1563406024
rs1563406024
FZD3
4 0.851 0.240 8 28555799 frameshift variant -/A delins 0.700 0
dbSNP: rs1569044747
rs1569044747
IL2RB
5 0.882 0.120 22 37139219 stop gained G/A snv 0.700 0
dbSNP: rs793888524
rs793888524
ADGRG6
2 0.925 0.080 6 142405702 frameshift variant -/G delins 0.700 0
dbSNP: rs793888525
rs793888525
ADGRG6
2 0.925 0.080 6 142408187 missense variant T/A snv 0.700 0
dbSNP: rs797045412
rs797045412
BICD2
17 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
dbSNP: rs749040743
rs749040743
RYR1
1 1.000 0.080 19 38467655 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs200546266
rs200546266
RYR1
2 1.000 0.080 19 38477821 missense variant C/A;T snv 4.0E-06; 1.4E-04 0.700 1.000 1 2020 2020
dbSNP: rs786205271
rs786205271
SCN5A
2 1.000 0.080 3 38551159 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2020 2020
dbSNP: rs117134265
rs117134265
ROR2
2 1.000 0.080 9 91724819 missense variant C/G;T snv 4.0E-06; 3.4E-04 0.700 1.000 1 2020 2020