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: rs768729972
rs768729972
ATP7B
1 1.000 0.160 13 51958500 frameshift variant -/A delins 0.700 1.000 3 1997 2014
dbSNP: rs748924063
rs748924063
ATP7B
1 1.000 0.160 13 51941084 frameshift variant -/A delins 4.0E-06 1.4E-05 0.700 1.000 2 1993 2013
dbSNP: rs1057516418
rs1057516418
ATP7B
1 1.000 0.160 13 51970522 frameshift variant -/A delins 0.700 1.000 1 1995 1995
dbSNP: rs1555282191
rs1555282191
ATP7B
1 1.000 0.160 13 51934870 frameshift variant -/A delins 0.700 1.000 1 2011 2011
dbSNP: rs1555296939
rs1555296939
ATP7B
1 1.000 0.160 13 51975108 frameshift variant -/A delins 0.700 1.000 1 2013 2013
dbSNP: rs1555282316
rs1555282316
ATP7B
1 1.000 0.160 13 51935003 frameshift variant -/A delins 0.700 0
dbSNP: rs1555291207
rs1555291207
ATP7B
1 1.000 0.160 13 51958448 frameshift variant -/A delins 0.700 0
dbSNP: rs1555296414
rs1555296414
ATP7B
1 1.000 0.160 13 51974481 frameshift variant -/A delins 0.700 0
dbSNP: rs1057517141
rs1057517141
ATP7B
1 1.000 0.160 13 51970697 frameshift variant -/AA delins 0.700 0
dbSNP: rs1555295017
rs1555295017
ATP7B
1 1.000 0.160 13 51970642 frameshift variant -/C delins 0.700 0
dbSNP: rs786204570
rs786204570
ATP7B
1 1.000 0.160 13 51974441 frameshift variant -/G delins 4.0E-06 2.1E-05 0.700 1.000 4 2000 2010
dbSNP: rs1057516561
rs1057516561
ATP7B
1 1.000 0.160 13 51975045 frameshift variant -/G delins 0.700 1.000 2 2005 2014
dbSNP: rs1555286522
rs1555286522
ATP7B
1 1.000 0.160 13 51944194 frameshift variant -/G delins 0.700 1.000 2 2011 2013
dbSNP: rs1555287300
rs1555287300
ATP7B
1 1.000 0.160 13 51946307 frameshift variant -/G delins 0.700 0
dbSNP: rs1057517384
rs1057517384
ATP7B
1 1.000 0.160 13 51974830 frameshift variant -/GC delins 0.700 0
dbSNP: rs1057516940
rs1057516940
ATP7B
1 1.000 0.160 13 51964920 frameshift variant -/T delins 0.700 1.000 2 2004 2016
dbSNP: rs1180133690
rs1180133690
ATP7B
1 1.000 0.160 13 51958443 stop gained -/T delins 7.0E-06 0.700 0
dbSNP: rs1555291870
rs1555291870
ATP7B
1 1.000 0.160 13 51960256 frameshift variant -/TA delins 0.700 0
dbSNP: rs1566468784
rs1566468784
ATP7B
1 1.000 0.160 13 51942496 frameshift variant -/TGGCACTGCCTGGC delins 0.700 0
dbSNP: rs193922111
rs193922111
ATP7B
1 1.000 0.160 13 51974375 frameshift variant A/- del 4.0E-06 0.700 1.000 7 1997 2011
dbSNP: rs1057516643
rs1057516643
ATP7B
1 1.000 0.160 13 51949717 frameshift variant A/- del 0.700 1.000 6 2001 2016
dbSNP: rs780327716
rs780327716
ATP7B
1 1.000 0.160 13 51964959 frameshift variant A/- del 8.0E-06 0.700 1.000 6 1995 2014
dbSNP: rs121907998
rs121907998
ATP7B
1 1.000 0.160 13 51961849 missense variant A/C snv 5.2E-04 4.0E-04 0.800 1.000 33 1995 2017
dbSNP: rs751798708
rs751798708
ATP7B
1 1.000 0.160 13 51958331 missense variant A/C snv 7.0E-06 0.800 1.000 24 1995 2017
dbSNP: rs1169959260
rs1169959260
ATP7B
1 1.000 0.160 13 51949681 missense variant A/C snv 7.0E-06 0.700 1.000 20 1995 2015