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: rs1057519286
rs1057519286
3 0.882 0.080 1 29196234 stop gained A/C;G snv 0.700 0
dbSNP: rs1057519287
rs1057519287
3 0.882 0.080 1 29216612 frameshift variant TGAT/- delins 0.700 0
dbSNP: rs145192716
rs145192716
3 0.882 0.080 1 29200574 missense variant G/A snv 6.4E-05 6.3E-05 0.700 0
dbSNP: rs756421370
rs756421370
8 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
dbSNP: rs759218713
rs759218713
3 0.882 0.080 1 29196235 missense variant T/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs762913101
rs762913101
3 0.882 0.080 1 29202004 missense variant C/T snv 7.2E-05 2.1E-05 0.700 0
dbSNP: rs730882147
rs730882147
5 0.851 0.080 6 41909351 missense variant C/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs895293055
rs895293055
5 0.851 0.080 6 41909351 frameshift variant C/- delins 0.010 1.000 1 2015 2015