Source: ALL
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: rs121917735
rs121917735
MAF ; LOC101928230
3 0.882 0.080 16 79599040 missense variant C/G;T snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs121917736
rs121917736
MAF ; LOC101928230
4 0.851 0.200 16 79599013 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs377423839
rs377423839
BFSP2
2 0.925 0.080 3 133400418 missense variant G/A snv 5.2E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs786205221
rs786205221
MAF ; LOC101928230
4 0.851 0.200 16 79599008 missense variant G/T snv 0.010 1.000 1 2014 2014