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: rs121912748
rs121912748
9 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.020 1.000 2 2003 2019
dbSNP: rs121912753
rs121912753
5 0.827 0.200 17 44251583 missense variant A/G snv 0.010 1.000 1 2004 2004