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: rs1226994105
rs1226994105
5 0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1273593548
rs1273593548
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2019 2019