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: rs1048103951
rs1048103951
TXNRD1
2 0.925 0.040 12 104321282 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs121965006
rs121965006
CYB5R3
3 0.882 0.040 22 42628233 missense variant A/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs371323516
rs371323516
CYB5R3
1 1.000 0.040 22 42636752 missense variant G/A;C snv 1.6E-05; 8.8E-05 0.010 1.000 1 1998 1998