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: rs864309736
rs864309736
MMUT
1 1.000 0.080 6 49457753 missense variant A/T snv 0.800 1.000 20 1990 2017
dbSNP: rs864309737
rs864309737
MMUT
1 1.000 0.080 6 49451701 missense variant T/C snv 0.800 1.000 20 1990 2017
dbSNP: rs864309738
rs864309738
MMUT
1 1.000 0.080 6 49447677 missense variant A/G snv 0.800 1.000 20 1990 2017
dbSNP: rs865815395
rs865815395
MMUT
1 1.000 0.080 6 49440244 missense variant C/A;G snv 0.700 1.000 20 1990 2017
dbSNP: rs879253827
rs879253827
MMUT
1 1.000 0.080 6 49459089 missense variant G/T snv 0.800 1.000 20 1990 2017
dbSNP: rs879253828
rs879253828
MMUT
1 1.000 0.080 6 49458047 missense variant C/T snv 0.800 1.000 20 1990 2017
dbSNP: rs879253829
rs879253829
MMUT
1 1.000 0.080 6 49458029 missense variant C/T snv 0.800 1.000 20 1990 2017
dbSNP: rs879253830
rs879253830
MMUT
1 1.000 0.080 6 49457884 missense variant G/C snv 0.800 1.000 20 1990 2017
dbSNP: rs879253833
rs879253833
MMUT
1 1.000 0.080 6 49457755 missense variant G/C snv 0.800 1.000 20 1990 2017
dbSNP: rs879253835
rs879253835
MMUT
1 1.000 0.080 6 49456140 missense variant C/T snv 0.800 1.000 20 1990 2017
dbSNP: rs879253837
rs879253837
MMUT
1 1.000 0.080 6 49453694 missense variant C/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: rs879253842
rs879253842
MMUT
1 1.000 0.080 6 49451527 missense variant G/A snv 0.800 1.000 20 1990 2017
dbSNP: rs879253845
rs879253845
MMUT
1 1.000 0.080 6 49444660 missense variant G/A snv 4.0E-06 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: rs879253847
rs879253847
MMUT
1 1.000 0.080 6 49440288 missense variant T/C snv 0.800 1.000 20 1990 2017
dbSNP: rs727504020
rs727504020
MMUT
4 0.882 0.200 6 49451591 stop gained G/A;C snv 4.0E-05; 2.4E-05 0.700 1.000 7 2002 2016
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: rs1554160638
rs1554160638
MMUT
1 1.000 0.080 6 49457774 stop gained C/A snv 0.700 1.000 4 2006 2015
dbSNP: rs770466993
rs770466993
MMUT
2 1.000 0.080 6 49453643 stop gained G/C;T snv 4.0E-06; 4.0E-06 0.700 1.000 4 2005 2015
dbSNP: rs780387525
rs780387525
MMUT
1 1.000 0.080 6 49453698 missense variant C/A;T snv 8.0E-06; 2.4E-05 0.700 1.000 4 2005 2016
dbSNP: rs1460509686
rs1460509686
MMUT
1 1.000 0.080 6 49459077 splice region variant C/T snv 4.0E-06 0.700 1.000 3 1995 2007
dbSNP: rs121918253
rs121918253
MMUT
2 0.925 0.080 6 49459118 stop gained C/A snv 0.700 1.000 2 1999 2006
dbSNP: rs1346775255
rs1346775255
MMUT
1 1.000 0.080 6 49451511 stop gained G/A;C snv 4.0E-06 0.700 1.000 2 2006 2016
dbSNP: rs1437477079
rs1437477079
MMUT
1 1.000 0.080 6 49459437 frameshift variant -/A delins 4.0E-06 0.700 1.000 2 2015 2016