Source: BEFREE ×
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: rs16891982
rs16891982
6 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.750 0.833 5 2008 2017
dbSNP: rs35414
rs35414
1 1.000 0.040 5 33969523 intron variant T/C snv 0.45 0.010 1.000 1 2011 2011