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: rs121913018
rs121913018
1 1.000 0.080 19 45352226 missense variant C/G snv 2.0E-05 4.2E-05 0.800 1.000 6 1994 2001
dbSNP: rs121913020
rs121913020
3 0.882 0.160 19 45368655 missense variant C/T snv 2.0E-05 6.3E-05 0.800 1.000 6 1994 2001
dbSNP: rs121913021
rs121913021
3 0.882 0.160 19 45352580 missense variant G/A snv 2.8E-05 4.2E-05 0.800 1.000 6 1994 2001
dbSNP: rs121913022
rs121913022
1 1.000 0.080 19 45352262 missense variant C/G snv 1.4E-05 0.800 1.000 6 1994 2001
dbSNP: rs121913026
rs121913026
4 0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05 0.800 1.000 6 1994 2001
dbSNP: rs376556895
rs376556895
4 0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06 0.800 1.000 6 1994 2001
dbSNP: rs121913016
rs121913016
5 0.827 0.160 19 45357368 missense variant G/C snv 1.2E-03 4.4E-04 0.700 1.000 6 1994 2001
dbSNP: rs370454709
rs370454709
1 1.000 0.080 19 45364274 missense variant C/T snv 5.6E-05 4.2E-05 0.700 1.000 6 1994 2001
dbSNP: rs762141272
rs762141272
3 0.882 0.160 19 45352579 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 6 1994 2001
dbSNP: rs770367713
rs770367713
1 1.000 0.080 19 45352565 missense variant A/G snv 8.0E-06 0.700 1.000 6 1994 2001
dbSNP: rs41556519
rs41556519
6 0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 0.700 0
dbSNP: rs762309206
rs762309206
2 0.925 0.160 19 45364833 splice donor variant CACT/- delins 1.1E-04 0.700 0
dbSNP: rs768342562
rs768342562
1 1.000 0.080 7 40133093 frameshift variant -/T delins 4.0E-06 0.700 0