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: rs137853247
rs137853247
5 0.851 0.200 12 120978860 missense variant G/A;C snv 7.7E-04; 4.0E-06 0.700 0
dbSNP: rs193922578
rs193922578
1 1.000 0.080 12 120978894 frameshift variant C/- delins 0.700 0
dbSNP: rs193922588
rs193922588
1 1.000 0.080 12 120978937 frameshift variant C/- del 0.700 0
dbSNP: rs193922592
rs193922592
1 1.000 0.080 12 120978769 start lost A/G;T snv 0.700 0
dbSNP: rs193922593
rs193922593
1 1.000 0.080 12 120979049 missense variant C/T snv 0.700 0
dbSNP: rs193922594
rs193922594
1 1.000 0.080 12 120979079 frameshift variant -/G delins 0.700 0
dbSNP: rs774637975
rs774637975
1 1.000 0.080 12 120978797 missense variant C/T snv 2.0E-05 2.1E-05 0.700 0