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: rs1050152
rs1050152
1 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.800 0.917 1 2006 2017
dbSNP: rs272888
rs272888
1 1.000 0.040 5 132329730 intron variant T/C snv 0.71 0.700 1.000 1 2007 2007