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: rs786204795
rs786204795
1 1.000 21 37714697 missense variant C/T snv 0.800 1.000 1 2015 2015
dbSNP: rs1556023562
rs1556023562
1 1.000 21 37714645 missense variant A/C snv 0.700 0
dbSNP: rs786204794
rs786204794
1 1.000 21 37714700 inframe deletion GGT/- delins 0.700 0