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: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2007 2007
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 2007 2007
dbSNP: rs3045
rs3045
ANKH ; OTULIN ; LOC100130744
2 0.925 0.080 5 14711166 3 prime UTR variant T/C snv 6.7E-02 9.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs759377924
rs759377924
SLC12A3
3 0.882 0.200 16 56879207 missense variant G/A snv 1.6E-04 8.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs875525
rs875525
ANKH
2 0.925 0.080 5 14747138 intron variant C/T snv 0.36 0.010 1.000 1 2014 2014