Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727504348
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101397982 missense variant C/T snv 2
rs398123226
RPL36A-HNRNPH2 ; GLA
0.882 0.160 X 101398403 missense variant G/C;T snv 1
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 2
rs199473684
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101399747 3 prime UTR variant C/T snv 3
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 2
rs104894630
SCO1
0.882 0.120 17 10692805 missense variant G/A snv 1
rs587777220
SCO1
0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06 1
rs397516407
MYL2
0.925 0.080 12 110911090 missense variant T/C;G snv 2
rs397516406
MYL2
0.925 0.040 12 110911093 missense variant C/T snv 1
rs199474814
MYL2
1.000 0.040 12 110911094 missense variant C/T snv 1
rs727503296
MYL2
1.000 0.040 12 110911096 missense variant T/C snv 1
rs397516399
MYL2
1.000 0.040 12 110914200 missense variant C/G;T snv 1
rs587782965
MYL2
0.882 0.080 12 110914221 missense variant G/T snv 3
rs397516398
MYL2
1.000 0.040 12 110914267 missense variant C/T snv 1
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 3
rs397516408
MYL2
0.925 0.080 12 110919117 missense variant T/C snv 2
rs104894368
MYL2
0.882 0.080 12 110919133 stop gained C/A;G;T snv 4.0E-06; 8.0E-06; 2.0E-05 3
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 2
rs121918462
PTPN11
0.742 0.320 12 112450398 missense variant C/T snv 8
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 11
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 18
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 6
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 7
rs199476398
MYOZ2 ; LOC105379404
0.925 0.040 4 119150937 missense variant T/C snv 1