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: rs1356844630
rs1356844630
5 0.925 0.160 12 57470802 stop gained C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs774885952
rs774885952
2 1.000 0.040 12 57464828 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016