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: rs1338204934
rs1338204934
TFR2
1 1.000 7 100633005 missense variant T/C snv 7.0E-06 0.010 1.000 1 2010 2010
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 1.000 1 2010 2010
dbSNP: rs782010418
rs782010418
HJV
1 1.000 1 146018174 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010