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: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.100 0.864 22 1999 2017
dbSNP: rs16932941
rs16932941
1 1.000 0.040 12 6845700 missense variant G/A snv 0.010 1.000 1 2015 2015