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: 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: 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: rs533755473
rs533755473
MMUT
1 1.000 0.080 6 49451521 missense variant C/G;T snv 0.800 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: rs864309733
rs864309733
MMUT
1 1.000 0.080 6 49457923 missense variant A/G snv 7.0E-06 0.800 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: 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: rs864309739
rs864309739
MMUT
1 1.000 0.080 6 49435526 missense variant A/C snv 7.0E-06 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