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: rs1555226081
rs1555226081
2 1.000 12 51768899 missense variant C/T snv 0.700 1.000 26 1995 2017
dbSNP: rs587780586
rs587780586
3 0.882 0.160 12 51765675 missense variant G/A snv 0.700 1.000 26 1995 2017