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: rs121918248
rs121918248
MMUT
2 0.925 0.080 6 49459415 stop gained G/A snv 2.1E-05 0.700 0
dbSNP: rs121918249
rs121918249
MMUT
2 0.925 0.080 6 49459154 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs121918250
rs121918250
MMUT
2 0.925 0.080 6 49451668 missense variant G/T snv 1.4E-05 0.700 0
dbSNP: rs121918251
rs121918251
MMUT
3 0.925 0.080 6 49459189 missense variant C/T snv 6.4E-05 4.2E-05 0.700 0
dbSNP: rs121918254
rs121918254
MMUT
2 0.925 0.080 6 49440295 missense variant C/G;T snv 8.0E-06 4.2E-05 0.700 0
dbSNP: rs121918255
rs121918255
MMUT
2 0.925 0.080 6 49435473 missense variant C/G snv 4.0E-06 0.700 0
dbSNP: rs121918256
rs121918256
MMUT
3 0.925 0.080 6 49457789 missense variant T/A snv 6.8E-05 2.8E-05 0.700 0
dbSNP: rs121918257
rs121918257
MMUT
2 0.925 0.080 6 49459145 missense variant G/A snv 1.2E-04 1.4E-05 0.700 0
dbSNP: rs121918258
rs121918258
MMUT
5 0.851 0.200 6 49457801 missense variant C/A;T snv 0.700 0
dbSNP: rs483352778
rs483352778
MMUT
3 0.925 0.080 6 49459144 missense variant C/T snv 2.0E-05; 4.0E-06 1.4E-05 0.700 0
dbSNP: rs879253820
rs879253820
MMUT
2 0.925 0.080 6 49459465 start lost A/G snv 0.700 0