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: rs121918258
rs121918258
MMUT
5 0.851 0.200 6 49457801 missense variant C/A;T snv 0.800 1.000 22 1990 2017
dbSNP: rs1554160246
rs1554160246
MMUT
1 1.000 0.080 6 49453754 missense variant A/G snv 0.800 1.000 21 1990 2017
dbSNP: rs775593146
rs775593146
MMUT
1 1.000 0.080 6 49441930 missense variant A/G snv 4.0E-06 0.800 1.000 21 1990 2017
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: 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: 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: rs1407914109
rs1407914109
MMUT
1 1.000 0.080 6 49453620 missense variant G/A snv 4.0E-06 0.700 1.000 20 1990 2017
dbSNP: rs1554158775
rs1554158775
MMUT
1 1.000 0.080 6 49440312 missense variant A/C snv 0.700 1.000 20 1990 2017
dbSNP: rs1554158777
rs1554158777
MMUT
1 1.000 0.080 6 49440318 missense variant G/C snv 0.700 1.000 20 1990 2017
dbSNP: rs1554158951
rs1554158951
MMUT
1 1.000 0.080 6 49441858 missense variant A/C snv 0.700 1.000 20 1990 2017
dbSNP: rs1554159937
rs1554159937
MMUT
1 1.000 0.080 6 49451642 missense variant G/T snv 0.700 1.000 20 1990 2017
dbSNP: rs1554160730
rs1554160730
MMUT
1 1.000 0.080 6 49458023 missense variant C/T snv 0.700 1.000 20 1990 2017
dbSNP: rs1554160986
rs1554160986
MMUT
1 1.000 0.080 6 49459207 missense variant C/T snv 0.700 1.000 20 1990 2017
dbSNP: rs200908035
rs200908035
MMUT
1 1.000 0.080 6 49457878 missense variant T/A;C snv 4.0E-06; 4.9E-04 0.800 1.000 20 1990 2017
dbSNP: rs533755473
rs533755473
MMUT
1 1.000 0.080 6 49451521 missense variant C/G;T snv 0.800 1.000 20 1990 2017
dbSNP: rs755077681
rs755077681
MMUT
1 1.000 0.080 6 49431813 missense variant C/T snv 8.0E-06 0.700 1.000 20 1990 2017
dbSNP: rs757000253
rs757000253
MMUT
1 1.000 0.080 6 49457977 missense variant T/A snv 0.800 1.000 20 1990 2017
dbSNP: rs760183775
rs760183775
MMUT
1 1.000 0.080 6 49444712 missense variant C/G snv 4.0E-06 0.700 1.000 20 1990 2017
dbSNP: rs761477436
rs761477436
MMUT
2 1.000 0.080 6 49456141 stop gained C/A;T snv 1.6E-05 0.800 1.000 20 1990 2017
dbSNP: rs766010704
rs766010704
MMUT
1 1.000 0.080 6 49451636 missense variant T/C;G snv 8.0E-06; 4.0E-06 0.700 1.000 20 1990 2017
dbSNP: rs766721811
rs766721811
MMUT
1 1.000 0.080 6 49440219 missense variant C/T snv 8.0E-06 0.700 1.000 20 1990 2017
dbSNP: rs768521956
rs768521956
MMUT
1 1.000 0.080 6 49440291 missense variant T/C snv 4.0E-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: rs864309735
rs864309735
MMUT
1 1.000 0.080 6 49459168 missense variant T/C snv 4.0E-06 0.800 1.000 20 1990 2017