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: rs1057518988
rs1057518988
3 0.925 0.040 12 13571859 missense variant T/C snv 0.700 0
dbSNP: rs1064797102
rs1064797102
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1064797103
rs1064797103
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs121908869
rs121908869
5 0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 0.700 0
dbSNP: rs121913578
rs121913578
MTR
5 0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05 0.700 0
dbSNP: rs139145929
rs139145929
1 1.000 0.040 8 67434148 stop gained G/A snv 3.2E-05 2.2E-04 0.700 0
dbSNP: rs1553456695
rs1553456695
1 1.000 0.040 2 156329859 frameshift variant -/C delins 0.700 0
dbSNP: rs1554823375
rs1554823375
8 0.851 0.160 10 1080454 missense variant C/T snv 0.700 0
dbSNP: rs1562927768
rs1562927768
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs1565532385
rs1565532385
3 0.925 0.080 11 118374964 frameshift variant CA/- del 0.700 0
dbSNP: rs192669225
rs192669225
3 0.925 0.040 1 109628692 missense variant G/A snv 0.700 0
dbSNP: rs199722402
rs199722402
3 0.925 0.120 15 40987186 missense variant C/T snv 3.1E-04 8.4E-04 0.700 0
dbSNP: rs368313959
rs368313959
8 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
dbSNP: rs372292910
rs372292910
3 1.000 0.040 5 141122905 frameshift variant A/-;AA delins 1.7E-04 0.700 0
dbSNP: rs374319146
rs374319146
6 0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 0.700 0
dbSNP: rs398122887
rs398122887
8 0.790 0.280 19 41967744 missense variant C/G;T snv 0.700 0
dbSNP: rs587776954
rs587776954
6 0.827 0.320 12 6944122 start lost A/G snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs730882200
rs730882200
3 0.882 0.040 20 48953604 frameshift variant -/C delins 0.700 0
dbSNP: rs730882203
rs730882203
6 0.851 0.080 1 46510953 missense variant C/T snv 0.700 0
dbSNP: rs730882210
rs730882210
6 0.827 0.280 20 45304356 missense variant C/G snv 0.700 0
dbSNP: rs730882211
rs730882211
2 1.000 0.040 4 118815132 missense variant C/G snv 0.700 0
dbSNP: rs730882212
rs730882212
4 0.851 0.120 2 130194199 missense variant G/A snv 7.2E-05; 4.0E-06 4.2E-05 0.700 0
dbSNP: rs730882222
rs730882222
3 0.925 0.040 17 6707026 splice donor variant A/C snv 0.700 0
dbSNP: rs730882223
rs730882223
4 0.851 0.120 1 184054736 missense variant T/G snv 0.700 0
dbSNP: rs730882226
rs730882226
3 0.925 0.120 15 41071953 missense variant A/G snv 1.6E-05 4.2E-05 0.700 0