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: rs28941474
rs28941474
1 6 131573314 missense variant T/C snv 4.0E-06 7.0E-06 0.810 1.000 1 1992 2018
dbSNP: rs104893944
rs104893944
1 6 131576666 stop gained C/G;T snv 4.0E-06; 6.0E-05 0.710 1.000 1 1999 2012