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: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.020 < 0.001 2 2016 2019
dbSNP: rs752907384
rs752907384
6 0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2004 2004