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: rs1555384318
rs1555384318
GALC
2 0.925 0.120 14 87992971 missense variant C/T snv 0.700 0
dbSNP: rs1555384335
rs1555384335
GALC
1 1.000 0.120 14 87993022 frameshift variant GAG/C delins 0.700 0
dbSNP: rs1555384342
rs1555384342
GALC
1 1.000 0.120 14 87993041 frameshift variant -/CGCCGGGCGCCAGC delins 0.700 0
dbSNP: rs1555384360
rs1555384360
GALC
1 1.000 0.120 14 87993115 frameshift variant TA/- delins 0.700 0
dbSNP: rs1555384380
rs1555384380
GALC
1 1.000 0.120 14 87993156 frameshift variant C/- del 0.700 0
dbSNP: rs1555384381
rs1555384381
GALC
1 1.000 0.120 14 87993157 frameshift variant -/C delins 0.700 0
dbSNP: rs1566967736
rs1566967736
GALC
1 1.000 0.120 14 87939930 missense variant C/A snv 0.700 0
dbSNP: rs375867319
rs375867319
GALC
1 1.000 0.120 14 87945682 missense variant A/G snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs746487628
rs746487628
GALC
1 1.000 0.120 14 87986599 missense variant C/T snv 4.0E-05 0.700 0
dbSNP: rs749597090
rs749597090
GALC
1 1.000 0.120 14 87945552 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs751283440
rs751283440
GALC
1 1.000 0.120 14 87941466 frameshift variant AAA/-;AA delins 4.0E-06 0.700 0
dbSNP: rs759511006
rs759511006
GALC
1 1.000 0.120 14 87982204 splice donor variant C/T snv 8.1E-06 0.700 0
dbSNP: rs762034337
rs762034337
GALC
1 1.000 0.120 14 87934812 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs766007316
rs766007316
GALC
1 1.000 0.120 14 87941414 stop gained -/T delins 8.1E-06 2.1E-05 0.700 0
dbSNP: rs771232832
rs771232832
GALC
1 1.000 0.120 14 87950711 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs776368825
rs776368825
GALC
1 1.000 0.120 14 87965592 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs779701490
rs779701490
GALC
1 1.000 0.120 14 87988143 splice donor variant C/A snv 8.0E-06 0.700 0
dbSNP: rs780593419
rs780593419
GALC
1 1.000 0.120 14 87934856 missense variant A/C snv 1.6E-05 0.700 0
dbSNP: rs886043419
rs886043419
GALC
1 1.000 0.120 14 87988474 frameshift variant -/CT delins 0.700 0
dbSNP: rs959445153
rs959445153
GALC
1 1.000 0.120 14 87988497 stop gained G/A;C snv 0.700 0
dbSNP: rs963756824
rs963756824
GALC
1 1.000 0.120 14 87984395 missense variant C/G snv 0.700 0
dbSNP: rs997021099
rs997021099
GALC
1 1.000 0.120 14 87984416 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs752537626
rs752537626
GALC
1 1.000 0.120 14 87941529 missense variant T/G snv 5.2E-05 2.8E-05 0.800 1.000 16 1995 2016
dbSNP: rs770485731
rs770485731
GALC
1 1.000 0.120 14 87950724 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.800 1.000 16 1988 2016
dbSNP: rs147313927
rs147313927
GALC
1 1.000 0.120 14 87986597 missense variant T/C;G snv 2.5E-03; 4.0E-06 0.800 1.000 15 1995 2016