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: rs2228224
rs2228224
GLI1
3 1.000 0.120 12 57471538 missense variant G/A snv 0.50 0.48 0.010 1.000 1 2010 2010
dbSNP: rs28937569
rs28937569
HSPB1
3 1.000 0.040 7 76304100 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs587783070
rs587783070
IARS2
3 0.925 0.040 1 220143109 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs74315317
rs74315317
GJB3 ; SMIM12 ; LOC105378642
3 1.000 0.080 1 34785018 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs765211108
rs765211108
NGLY1
3 1.000 0.080 3 25729208 frameshift variant ATTG/- delins 1.7E-05 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs879253869
rs879253869
PMP2
3 0.925 0.080 8 81444935 missense variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1555937122
rs1555937122
GJB1
4 0.925 0.080 X 71223973 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs28939680
rs28939680
HSPB1
4 0.925 0.080 7 76303841 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs74315316
rs74315316
GJB3 ; SMIM12 ; LOC105378642
4 0.925 0.080 1 34784797 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs80356711
rs80356711
PRNP
4 1.000 20 4699698 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs879253863
rs879253863
TRIM2
4 0.925 0.160 4 153324126 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
4 0.925 0.120 22 50527165 inframe deletion AGC/- delins 0.700 0
dbSNP: rs761665644
rs761665644
TYMP ; SCO2
4 0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06 0.700 0
dbSNP: rs281865128
rs281865128
MPZ
5 0.882 0.080 1 161306426 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs587781263
rs587781263
PRPS1
5 0.925 0.240 X 107650000 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs74315321
rs74315321
GJB3 ; SMIM12 ; LOC105378642
5 0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs104894664
rs104894664
TTR
6 0.882 0.120 18 31592959 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs121918068
rs121918068
TTR
6 0.882 0.200 18 31592983 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs587781262
rs587781262
PRPS1
6 0.882 0.240 X 107640938 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs958191819
rs958191819
TTR
6 0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs769405586
rs769405586
ABCC6
6 0.925 0.200 16 16178934 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1057517686
rs1057517686
ATAD3A
7 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs17183814
rs17183814
SCN2A
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs397515323
rs397515323
PDK3
7 0.851 0.080 X 24503479 missense variant G/A snv 0.010 1.000 1 2013 2013