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: rs137853061
rs137853061
1 1.000 0.200 5 7892815 missense variant G/A snv 0.800 1.000 2 1998 1999
dbSNP: rs761061866
rs761061866
1 1.000 0.200 5 7873409 missense variant G/A;T snv 8.0E-06 0.700 1.000 2 1998 1999
dbSNP: rs768980918
rs768980918
1 1.000 0.200 5 7896862 splice region variant GAGA/- delins 5.6E-05 0.700 1.000 2 1998 2015
dbSNP: rs137853062
rs137853062
1 1.000 0.200 5 7891405 missense variant C/T snv 7.2E-06 0.700 0
dbSNP: rs1554006017
rs1554006017
1 1.000 0.200 5 7892735 stop gained T/G snv 0.700 0