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: rs1565050709
rs1565050709
1 11 19186268 frameshift variant G/- delins 0.700 0
dbSNP: rs193922667
rs193922667
1 11 19186265 missense variant C/T snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs902082118
rs902082118
1 11 19186266 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs104894204
rs104894204
4 0.882 0.040 11 19188245 missense variant A/C snv 0.010 1.000 1 2018 2018