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: rs1057516270
rs1057516270
GALC
1 1.000 0.120 14 87963480 stop gained C/T snv 0.700 0
dbSNP: rs1057516394
rs1057516394
GALC
1 1.000 0.120 14 87949910 frameshift variant C/-;CC delins 7.0E-06 0.700 0
dbSNP: rs1057516453
rs1057516453
GALC
1 1.000 0.120 14 87939926 stop gained A/T snv 4.0E-06 0.700 0
dbSNP: rs1057516632
rs1057516632
GALC
1 1.000 0.120 14 87986487 splice donor variant A/C snv 0.700 0
dbSNP: rs1057516673
rs1057516673
GALC
1 1.000 0.120 14 87986516 stop gained T/A;C snv 0.700 0
dbSNP: rs1057516808
rs1057516808
GALC
1 1.000 0.120 14 87965566 frameshift variant C/- del 0.700 0
dbSNP: rs1057516816
rs1057516816
GALC
1 1.000 0.120 14 87993036 stop gained G/A;C;T snv 0.700 0
dbSNP: rs1057517033
rs1057517033
GALC
1 1.000 0.120 14 87939979 stop gained C/A snv 0.700 0
dbSNP: rs1057517082
rs1057517082
GALC
1 1.000 0.120 14 87947790 frameshift variant -/T delins 4.0E-06 0.700 0
dbSNP: rs1057517185
rs1057517185
GALC
1 1.000 0.120 14 87984507 frameshift variant -/CC delins 0.700 0
dbSNP: rs1057517187
rs1057517187
GALC
1 1.000 0.120 14 87992961 splice donor variant CACCCCGCCGCCGCT/- delins 0.700 0
dbSNP: rs1057517372
rs1057517372
GALC
1 1.000 0.120 14 87949910 stop gained -/ACT delins 0.700 0
dbSNP: rs1057517382
rs1057517382
GALC
1 1.000 0.120 14 87965517 frameshift variant C/- del 0.700 0
dbSNP: rs1064793131
rs1064793131
GALC
1 1.000 0.120 14 87993010 frameshift variant C/- delins 0.700 0
dbSNP: rs121908010
rs121908010
GALC
1 1.000 0.120 14 87963392 stop gained C/A snv 0.700 0
dbSNP: rs1376496659
rs1376496659
GALC
1 1.000 0.120 14 87963394 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1428763453
rs1428763453
GALC
1 1.000 0.120 14 87982205 splice region variant C/T snv 4.1E-06 0.700 0
dbSNP: rs1472207768
rs1472207768
GALC
1 1.000 0.120 14 87965571 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1555377947
rs1555377947
GALC
1 1.000 0.120 14 87934879 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1555378562
rs1555378562
GALC
1 1.000 0.120 14 87939982 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555379669
rs1555379669
GALC
1 1.000 0.120 14 87949844 splice donor variant C/G snv 0.700 0
dbSNP: rs1555381417
rs1555381417
GALC
1 1.000 0.120 14 87963383 splice donor variant C/- delins 0.700 0
dbSNP: rs1555381958
rs1555381958
GALC
1 1.000 0.120 14 87968415 frameshift variant AA/- delins 0.700 0
dbSNP: rs1555383308
rs1555383308
GALC
1 1.000 0.120 14 87982234 frameshift variant -/A delins 0.700 0
dbSNP: rs1555383498
rs1555383498
GALC
1 1.000 0.120 14 87984398 missense variant A/G snv 0.700 0