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: rs121912673
rs121912673
ACTC1 ; LOC101928174
4 0.882 0.080 15 34791163 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs121912677
rs121912677
ACTC1 ; LOC101928174
2 1.000 0.080 15 34793326 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1393142163
rs1393142163
CTNNA3
2 10 67521867 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs147435491
rs147435491
SARDH
2 1.000 0.080 9 133730099 missense variant C/T snv 6.4E-05 7.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs267606782
rs267606782
EMD
4 0.925 0.120 X 154379485 start lost A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs4641
rs4641
LMNA
6 0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21 0.010 1.000 1 2015 2015
dbSNP: rs4746172
rs4746172
VCL
3 10 74096084 intron variant C/T snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs672601347
rs672601347
COL4A1
3 0.925 0.120 13 110179298 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs760185784
rs760185784
DSC2
2 18 31089533 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs778740017
rs778740017
COX6B1
3 0.925 0.120 19 35651301 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs786205436
rs786205436
SDHD
5 0.882 0.080 11 112088972 missense variant A/G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs8193036
rs8193036
IL17A
21 0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs121918093
rs121918093
TTR
4 0.882 0.200 18 31592944 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1334828551
rs1334828551
MUL1
2 1 20500800 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1465957886
rs1465957886
SI
2 1.000 0.120 3 165046930 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2232228
rs2232228
HAS3
1 16 69109674 synonymous variant A/C;G snv 8.1E-06; 0.40 0.010 1.000 1 2014 2014
dbSNP: rs587777425
rs587777425
DCAF8
3 1.000 1 160237145 missense variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs764670084
rs764670084
GAA
3 0.925 0.120 17 80112621 missense variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs886042961
rs886042961
GAA
2 1.000 0.120 17 80108713 missense variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12582717
rs12582717
SLCO1B1
1 12 21143872 intron variant C/G snv 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs144983062
rs144983062
ITGA7
2 1.000 0.080 12 55693209 missense variant C/T snv 4.3E-03 3.4E-03 0.010 1.000 1 2013 2013
dbSNP: rs202247814
rs202247814
PCCA
2 1.000 0.080 13 100155090 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs371792178
rs371792178
DPYD
3 0.925 0.040 1 97699507 missense variant G/A;C snv 3.6E-05; 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs4149018
rs4149018
SLCO1B1
2 1.000 0.080 12 21138627 intron variant T/G snv 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs869125101
rs869125101
LMNA
2 1.000 0.080 1 156134529 splice donor variant G/A;C snv 0.700 1.000 1 2013 2013