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: rs121913595
rs121913595
MPZ
11 0.742 0.160 1 161306785 missense variant G/A;T snv 0.800 1.000 3 1996 2004
dbSNP: rs11154178
rs11154178
TRDN ; LOC105377982
7 0.807 0.240 6 123540174 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs12137595
rs12137595 		5 0.851 0.080 1 4034008 regulatory region variant C/T snv 8.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs28485846
rs28485846
UNC5D
7 0.807 0.240 8 35265058 intron variant C/T snv 5.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs3761980
rs3761980
MAPK14 ; SLC26A8
7 0.807 0.240 6 36026129 upstream gene variant A/G snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs71597855
rs71597855 		7 0.807 0.240 4 53790270 intron variant G/A snv 2.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs80028505
rs80028505
MAPK14
7 0.807 0.240 6 36030611 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs121913593
rs121913593
MPZ
1 1.000 1 161306110 stop gained G/A snv 0.700 0
dbSNP: rs1560046845
rs1560046845
RHO
1 1.000 3 129532268 frameshift variant -/G delins 0.700 0