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: rs10771973
rs10771973
1 1.000 0.080 12 32640040 intron variant G/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs121913602
rs121913602
MPZ
3 0.851 0.120 1 161307308 missense variant T/A snv 0.010 1.000 1 1999 1999
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2019 2019
dbSNP: rs7349683
rs7349683
3 0.925 0.080 4 65332086 synonymous variant C/A;T snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs777050623
rs777050623
1 1.000 0.080 14 99175768 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2013 2013