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: rs672601312
rs672601312
1 1.000 1 1014359 stop gained G/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs672601345
rs672601345
1 1.000 1 1014316 frameshift variant -/G delins 0.700 0
dbSNP: rs786201005
rs786201005
1 1.000 1 1014143 stop gained C/T snv 0.700 0