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: rs1427299519
rs1427299519
2 1.000 20 32433315 stop gained C/T snv 8.0E-06 1.4E-05 0.700 1.000 7 2004 2015
dbSNP: rs1555912285
rs1555912285
3 1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins 0.700 1.000 7 2004 2015
dbSNP: rs1555912897
rs1555912897
2 1.000 20 32436833 frameshift variant -/G delins 0.700 1.000 7 2004 2015
dbSNP: rs754129466
rs754129466
2 1.000 20 32436955 stop gained C/G;T snv 1.2E-04 4.9E-05 0.700 1.000 7 2004 2015
dbSNP: rs777537805
rs777537805
2 1.000 20 32433740 frameshift variant TG/- delins 0.700 1.000 7 2004 2015