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: rs11127
rs11127
GNLY
3 0.925 0.160 2 85697606 missense variant C/T snv 0.39 0.31 0.010 1.000 1 2012 2012
dbSNP: rs1561285
rs1561285
GNLY
2 0.925 0.160 2 85697261 non coding transcript exon variant C/G snv 0.43 0.010 1.000 1 2012 2012
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 2004 2004
dbSNP: rs2886767
rs2886767
GNLY
2 0.925 0.160 2 85693206 intron variant T/C snv 0.29 0.010 1.000 1 2012 2012