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: rs104894572
rs104894572
GALK1
2 1.000 0.120 17 75765055 missense variant G/A;T snv 8.9E-06 0.810 1.000 10 1999 2011
dbSNP: rs80084721
rs80084721
GALK1
2 0.925 0.160 17 75763032 missense variant G/A;T snv 1.2E-03 0.810 1.000 6 1999 2004
dbSNP: rs104894576
rs104894576
GALK1
1 1.000 0.120 17 75765043 missense variant C/T snv 8.6E-06 2.8E-05 0.700 1.000 6 1999 2004
dbSNP: rs1184406839
rs1184406839
GALK1 ; ITGB4
1 1.000 0.120 17 75758085 missense variant C/G snv 4.1E-06 0.700 1.000 6 1999 2004
dbSNP: rs1555748926
rs1555748926
GALK1
1 1.000 0.120 17 75765007 missense variant G/A snv 0.700 1.000 6 1999 2004
dbSNP: rs575139300
rs575139300
GALK1
1 1.000 0.120 17 75762781 missense variant C/T snv 2.8E-05 7.0E-06 0.700 1.000 6 1999 2004
dbSNP: rs754967473
rs754967473
GALK1 ; ITGB4
1 1.000 0.120 17 75758272 missense variant C/T snv 1.4E-05 4.2E-05 0.700 1.000 6 1999 2004
dbSNP: rs767329054
rs767329054
GALK1
1 1.000 0.120 17 75763385 frameshift variant C/-;CC delins 0.700 1.000 2 1999 2010
dbSNP: rs111033608
rs111033608
GALK1 ; ITGB4
1 1.000 0.120 17 75758091 stop gained G/A snv 3.7E-05 8.4E-05 0.700 1.000 1 2000 2000
dbSNP: rs371517491
rs371517491
GALK1 ; ITGB4
1 1.000 0.120 17 75758286 missense variant G/A snv 1.5E-05 4.2E-05 0.700 1.000 1 1999 1999
dbSNP: rs1026685248
rs1026685248
GALK1 ; ITGB4
1 1.000 0.120 17 75758300 stop gained A/G;T snv 4.7E-06 7.0E-06 0.700 0
dbSNP: rs104894577
rs104894577
GALK1
1 1.000 0.120 17 75764014 stop gained C/A snv 0.700 0
dbSNP: rs113464656
rs113464656
GALK1
1 1.000 0.120 17 75758448 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs1311294794
rs1311294794
GALK1
1 1.000 0.120 17 75765136 start lost T/C;G snv 0.700 0
dbSNP: rs1365349586
rs1365349586
GALK1
1 1.000 0.120 17 75764050 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1555748534
rs1555748534
GALK1
1 1.000 0.120 17 75762785 frameshift variant -/GGTACTCGCTGGAGGCCAGGGAG delins 0.700 0
dbSNP: rs1555748556
rs1555748556
GALK1
1 1.000 0.120 17 75762886 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555748940
rs1555748940
GALK1
1 1.000 0.120 17 75765058 stop gained C/A snv 0.700 0
dbSNP: rs375690568
rs375690568
GALK1 ; ITGB4
1 1.000 0.120 17 75758281 missense variant C/T snv 9.2E-05 7.0E-05 0.700 0
dbSNP: rs759284637
rs759284637
GALK1
1 1.000 0.120 17 75758530 missense variant G/A snv 1.9E-05 2.1E-05 0.700 0
dbSNP: rs770087254
rs770087254
GALK1
1 1.000 0.120 17 75758519 frameshift variant GCCTGGGCCGTGCGCCGAATCT/- delins 0.700 0
dbSNP: rs771067891
rs771067891
GALK1
1 1.000 0.120 17 75765033 frameshift variant -/GC delins 0.700 0