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: rs1064793768
rs1064793768
MMUT
1 1.000 0.080 6 49459155 frameshift variant G/- delins 0.700 0
dbSNP: rs1064796328
rs1064796328
MMUT
1 1.000 0.080 6 49453661 frameshift variant A/- del 0.700 0
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: rs1164271240
rs1164271240
MMUT
1 1.000 0.080 6 49435560 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs1179778233
rs1179778233
MMUT
1 1.000 0.080 6 49456129 missense variant A/C;G snv 4.0E-06 0.700 0
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: rs12175488
rs12175488
MMUT
1 1.000 0.080 6 49456163 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.800 1.000 20 1990 2017
dbSNP: rs121918241
rs121918241
MMACHC
2 0.925 0.160 1 45508329 stop gained C/A;T snv 4.0E-06; 9.6E-05 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: 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: rs121918249
rs121918249
MMUT
2 0.925 0.080 6 49459154 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 21 1990 2017
dbSNP: rs121918250
rs121918250
MMUT
2 0.925 0.080 6 49451668 missense variant G/T snv 1.4E-05 0.700 1.000 20 1990 2017
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: 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: rs121918253
rs121918253
MMUT
2 0.925 0.080 6 49459118 stop gained C/A snv 0.700 1.000 2 1999 2006
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: rs121918255
rs121918255
MMUT
2 0.925 0.080 6 49435473 missense variant C/G snv 4.0E-06 0.700 1.000 20 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: rs121918257
rs121918257
MMUT
2 0.925 0.080 6 49459145 missense variant G/A snv 1.2E-04 1.4E-05 0.800 1.000 29 1989 2017
dbSNP: rs121918258
rs121918258
MMUT
5 0.851 0.200 6 49457801 missense variant C/A;T snv 0.800 1.000 22 1990 2017
dbSNP: rs1227030642
rs1227030642
MMUT
1 1.000 0.080 6 49451601 frameshift variant CA/- delins 4.0E-06 0.700 0
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: rs1300547552
rs1300547552
MMUT
1 1.000 0.080 6 49458001 stop gained G/A;C snv 4.1E-06; 4.1E-06 0.700 1.000 20 1990 2017
dbSNP: rs1302409621
rs1302409621
MMUT
1 1.000 0.080 6 49440319 missense variant G/T snv 4.0E-06 0.700 1.000 20 1990 2017
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