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: 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: 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: rs1461110052
rs1461110052
MMUT
1 1.000 0.080 6 49459141 missense variant T/C snv 4.0E-06 7.0E-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: rs368790885
rs368790885
MMUT
1 1.000 0.080 6 49451690 missense variant T/G snv 4.0E-06 1.4E-05 0.700 1.000 20 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: rs563776413
rs563776413
MMUT
1 1.000 0.080 6 49451707 missense variant T/C;G snv 4.0E-05 1.4E-05 0.700 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: 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: 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: rs769922244
rs769922244
MMUT
1 1.000 0.080 6 49451522 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 20 1990 2017
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: rs781501004
rs781501004
MMUT
1 1.000 0.080 6 49440253 missense variant C/T snv 4.0E-06 1.4E-05 0.700 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: 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