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: rs1555144911
rs1555144911
1 1.000 12 11869574 frameshift variant T/- del 0.700 0
dbSNP: rs724159945
rs724159945
3 1.000 12 11885968 missense variant C/A;T snv 0.800 0
dbSNP: rs724159946
rs724159946
3 1.000 12 11884541 missense variant G/A snv 7.0E-06 0.800 0
dbSNP: rs724159947
rs724159947
6 0.851 0.120 12 11869601 missense variant C/T snv 0.800 0
dbSNP: rs786205226
rs786205226
1 1.000 12 11886025 missense variant A/G snv 0.700 0