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: rs864309738
rs864309738
MMUT
1 1.000 0.080 6 49447677 missense variant A/G snv 0.800 1.000 20 1990 2017
dbSNP: rs879253846
rs879253846
MMUT
1 1.000 0.080 6 49440309 missense variant A/G snv 0.800 1.000 20 1990 2017
dbSNP: rs965316043
rs965316043
MMUT
1 1.000 0.080 6 49453685 missense variant A/G snv 4.0E-06 2.1E-05 0.700 1.000 3 2007 2012
dbSNP: rs879253820
rs879253820
MMUT
2 0.925 0.080 6 49459465 start lost A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs750619189
rs750619189
MMUT
1 1.000 0.080 6 49440204 splice donor variant A/G snv 8.4E-05 7.0E-06 0.700 0
dbSNP: rs796052007
rs796052007
MMUT
1 1.000 0.080 6 49456149 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs140600746
rs140600746
MMUT
1 1.000 0.080 6 49435481 missense variant A/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 4 2005 2014
dbSNP: rs1192889987
rs1192889987
MMUT
1 1.000 0.080 6 49459080 splice donor variant A/G;T snv 7.0E-06 0.700 0
dbSNP: rs864309736
rs864309736
MMUT
1 1.000 0.080 6 49457753 missense variant A/T snv 0.800 1.000 20 1990 2017
dbSNP: rs879253840
rs879253840
MMUT
1 1.000 0.080 6 49451634 missense variant A/T snv 0.800 1.000 20 1990 2017
dbSNP: rs764173488
rs764173488
MMUT
3 0.925 0.200 6 49447749 stop gained A/T snv 8.0E-06 0.700 1.000 2 2006 2013
dbSNP: rs796052006
rs796052006
MMUT
2 1.000 0.080 6 49457689 splice donor variant A/T snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1360470463
rs1360470463
MMUT
1 1.000 0.080 6 49435574 missense variant A/T snv 7.0E-06 0.700 0
dbSNP: rs879253843
rs879253843
MMUT
1 1.000 0.080 6 49448936 intron variant ACATTAACAAAA/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1554158377
rs1554158377
MMUT
1 1.000 0.080 6 49435617 frameshift variant AG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs765373403
rs765373403
MMUT
1 1.000 0.080 6 49453628 inframe deletion AGA/- delins 7.0E-06 0.700 1.000 5 1998 2016
dbSNP: rs771542321
rs771542321
MMUT
1 1.000 0.080 6 49451465 splice donor variant C/- delins 4.0E-06 2.1E-05 0.700 1.000 1 2006 2006
dbSNP: rs879253849
rs879253849
MMUT
1 1.000 0.080 6 49435502 frameshift variant C/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1554158372
rs1554158372
MMUT
1 1.000 0.080 6 49435590 frameshift variant C/- del 0.700 0
dbSNP: rs121918252
rs121918252
MMUT
3 0.925 0.080 6 49431831 missense variant C/A snv 4.8E-05 2.1E-04 0.800 1.000 22 1990 2017
dbSNP: rs535411418
rs535411418
MMUT
1 1.000 0.080 6 49459186 missense variant C/A snv 8.0E-06 7.0E-06 0.700 1.000 20 1990 2017
dbSNP: rs864309734
rs864309734
MMUT
1 1.000 0.080 6 49453733 missense variant C/A snv 0.800 1.000 20 1990 2017
dbSNP: rs1554160638
rs1554160638
MMUT
1 1.000 0.080 6 49457774 stop gained C/A snv 0.700 1.000 4 2006 2015
dbSNP: rs200019422
rs200019422
MMUT
1 1.000 0.080 6 49447669 splice donor variant C/A snv 7.1E-06 0.700 1.000 4 2005 2007
dbSNP: rs121918253
rs121918253
MMUT
2 0.925 0.080 6 49459118 stop gained C/A snv 0.700 1.000 2 1999 2006