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: rs11429307
rs11429307
1 5 56561198 intron variant -/T;TT delins 0.700 1.000 1 2016 2016
dbSNP: rs547065676
rs547065676
1 5 56561722 intron variant T/-;TT;TTT;TTTTTTTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs5868014
rs5868014
1 5 56565081 intron variant C/- delins 0.13 0.700 1.000 1 2016 2016