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: rs386834260
rs386834260
RD3
2 0.925 0.040 1 211481119 splice donor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs762631020
rs762631020
RD3
1 1.000 0.040 1 211481236 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs786205148
rs786205148
RD3
1 1.000 0.040 1 211481304 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs786205149
rs786205149
RD3
1 1.000 0.040 1 211481278 frameshift variant TC/- delins 0.700 0
dbSNP: rs786205150
rs786205150
RD3
1 1.000 0.040 1 211481280 stop gained C/A snv 0.700 0