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: rs1324934886
rs1324934886
SAG
1 1.000 0.080 2 233322968 stop gained C/G;T snv 7.0E-06 0.700 0
dbSNP: rs201153410
rs201153410
SAG
2 0.925 0.080 2 233328542 stop gained C/T snv 1.3E-04 2.0E-04 0.700 0
dbSNP: rs397514681
rs397514681
SAG
1 1.000 0.080 2 233335029 stop gained C/G;T snv 5.6E-05; 4.8E-05 0.700 0
dbSNP: rs397514682
rs397514682
SAG
2 0.925 0.080 2 233335071 stop gained G/A;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs587776778
rs587776778
SAG
2 0.925 0.080 2 233335079 frameshift variant A/- delins 0.700 0
dbSNP: rs587777209
rs587777209
SAG
1 1.000 0.080 2 233328488 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0