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: rs1554042187
rs1554042187
1 5 74758878 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs746538436
rs746538436
1 5 74746138 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs761283105
rs761283105
1 5 74747731 missense variant C/T snv 1.6E-05 2.8E-05 0.700 1.000 1 2017 2017