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: rs12696304
rs12696304 		10 0.776 0.320 3 169763483 downstream gene variant C/G snv 0.38 0.020 1.000 2 2011 2018
dbSNP: rs121912985
rs121912985
DSPP
2 0.925 0.080 4 87612186 stop gained C/A;T snv 0.010 1.000 1 2001 2001
dbSNP: rs16847897
rs16847897
LRRC31
4 0.851 0.320 3 169850328 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 < 0.001 1 2003 2003
dbSNP: rs2630578
rs2630578
BICD1
1 1.000 0.040 12 32152853 intron variant G/C snv 0.14 0.010 1.000 1 2008 2008