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: rs1064795945
rs1064795945
5 1.000 0.120 1 197102332 frameshift variant AAGT/- delins 0.700 1.000 2 2002 2009
dbSNP: rs199422151
rs199422151
4 0.882 0.120 1 197125190 stop gained G/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs199422152
rs199422152
4 0.882 0.120 1 197125161 stop gained C/T snv 0.700 0
dbSNP: rs199422173
rs199422173
7 0.827 0.120 1 197101468 frameshift variant CT/- delins 2.3E-04 1.7E-04 0.700 0