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: rs115923556
rs115923556
MMUT
1 1.000 0.080 6 49459262 missense variant T/C snv 2.0E-03 2.4E-03 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: rs148285323
rs148285323
MMUT
1 1.000 0.080 6 49441871 stop gained C/A;G snv 3.2E-05 1.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs147715336
rs147715336
MMUT
1 1.000 0.080 6 49435554 missense variant C/T snv 8.4E-05 1.0E-04 0.700 0
dbSNP: rs121918243
rs121918243
MMACHC
5 0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 0.700 0
dbSNP: rs564069299
rs564069299
MMUT
1 1.000 0.080 6 49451692 missense variant C/T snv 6.8E-05 5.6E-05 0.700 1.000 10 1997 2016
dbSNP: rs781474200
rs781474200
MMUT
1 1.000 0.080 6 49453721 missense variant T/C snv 2.8E-05 5.6E-05 0.700 1.000 20 1990 2017
dbSNP: rs747897332
rs747897332
MMUT
1 1.000 0.080 6 49440238 missense variant C/G snv 2.0E-05 5.6E-05 0.700 1.000 5 2005 2016
dbSNP: rs772552898
rs772552898
MMUT
1 1.000 0.080 6 49451693 missense variant G/A snv 2.0E-05 4.2E-05 0.800 1.000 27 1990 2017
dbSNP: rs760782399
rs760782399
MMUT
2 1.000 0.080 6 49457872 missense variant G/T snv 3.2E-05 4.2E-05 0.700 1.000 8 2005 2016
dbSNP: rs121918251
rs121918251
MMUT
3 0.925 0.080 6 49459189 missense variant C/T snv 6.4E-05 4.2E-05 0.800 1.000 21 1990 2017
dbSNP: rs121918254
rs121918254
MMUT
2 0.925 0.080 6 49440295 missense variant C/G;T snv 8.0E-06 4.2E-05 0.800 1.000 23 1990 2017
dbSNP: rs774159791
rs774159791
MMUT
2 1.000 0.080 6 49448861 stop gained G/A snv 6.8E-05 2.8E-05 0.700 1.000 5 2002 2012
dbSNP: rs200596762
rs200596762
MMUT
1 1.000 0.080 6 49457762 stop gained G/A snv 6.4E-05 2.8E-05 0.700 1.000 6 2005 2016
dbSNP: rs398123278
rs398123278
MMUT
4 0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 0.700 1.000 2 2006 2016
dbSNP: rs777031588
rs777031588
MMUT
1 1.000 0.080 6 49451724 intron variant T/C snv 3.2E-05 2.8E-05 0.700 1.000 3 2012 2017
dbSNP: rs143023066
rs143023066
MMUT
1 1.000 0.080 6 49440273 missense variant C/G;T snv 1.2E-05 2.8E-05 0.800 1.000 23 1990 2017
dbSNP: rs121918256
rs121918256
MMUT
3 0.925 0.080 6 49457789 missense variant T/A snv 6.8E-05 2.8E-05 0.800 1.000 21 1990 2017
dbSNP: rs761525156
rs761525156
MMUT
2 1.000 0.080 6 49447699 stop gained G/A snv 4.0E-06 2.1E-05 0.700 1.000 1 2006 2006
dbSNP: rs1238694184
rs1238694184
MMUT
1 1.000 0.080 6 49441907 stop gained G/A snv 2.1E-05 0.700 1.000 1 2006 2006
dbSNP: rs121918248
rs121918248
MMUT
2 0.925 0.080 6 49459415 stop gained G/A snv 2.1E-05 0.700 1.000 3 1987 2006
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: rs372486357
rs372486357
MMUT
1 1.000 0.080 6 49440282 missense variant T/C snv 1.2E-05 2.1E-05 0.800 1.000 23 1990 2017
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: rs779990936
rs779990936
MMUT
1 1.000 0.080 6 49431802 stop gained G/A snv 3.2E-05 1.4E-05 0.700 1.000 7 2006 2016