Source: CURATED ×
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: rs1303000329
rs1303000329
4 0.851 0.080 8 13110812 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1563593163
rs1563593163
2 0.925 0.080 8 13099960 stop gained G/A snv 0.700 0
dbSNP: rs1565818580
rs1565818580
2 0.925 0.080 10 32908395 frameshift variant -/T delins 0.700 0
dbSNP: rs786204030
rs786204030
3 0.882 0.080 1 11791276 stop gained C/T snv 0.700 0