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: rs10500279
rs10500279
RYR1
1 1.000 0.080 19 38544428 intron variant G/C snv 5.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs1974201
rs1974201
ENPP1
1 1.000 0.080 6 131889981 intron variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2071090
rs2071090
RYR1
1 1.000 0.080 19 38524814 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs2960321
rs2960321
RYR1
1 1.000 0.080 19 38557523 intron variant C/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2012 2012
dbSNP: rs9402349
rs9402349
ENPP1
1 1.000 0.080 6 131863968 intron variant A/C snv 9.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs17132261
rs17132261
TMEM232
2 1.000 0.080 5 110672513 intron variant C/T snv 4.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs2292462
rs2292462
NMB
2 1.000 0.080 15 84657523 intron variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4966014
rs4966014
IGF1R
3 0.882 0.200 15 98704789 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs5068
rs5068
CLCN6 ; NPPA ; NPPA-AS1
13 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11053646
rs11053646
OLR1
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2014 2014
dbSNP: rs148158093
rs148158093
GLA ; RPL36A-HNRNPH2
3 0.925 0.200 X 101403828 missense variant G/A snv 2.2E-04 4.0E-04 0.010 1.000 1 2014 2014
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.010 1.000 1 2014 2014
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 1.000 1 2014 2014
dbSNP: rs397516005
rs397516005
MYBPC3
5 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.040 1.000 4 2015 2019
dbSNP: rs17168525
rs17168525
MTPN ; LUZP6
1 1.000 0.080 7 135928514 3 prime UTR variant G/A snv 1.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs1799998
rs1799998
CYP11B2
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs4129218
rs4129218
LOC100507065
1 1.000 0.080 12 65564881 intron variant G/A snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs201278114
rs201278114
MYBPC3
3 0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs2070951
rs2070951
NR3C2
9 0.776 0.320 4 148436862 splice region variant G/A;C snv 4.2E-06; 0.53 0.010 1.000 1 2016 2016
dbSNP: rs238234
rs238234
CAMTA2
1 1.000 0.080 17 4980523 missense variant C/A;G;T snv 5.6E-05; 0.75; 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs5522
rs5522
NR3C2
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2016 2016
dbSNP: rs1050606
rs1050606
ANXA5
2 1.000 0.080 4 121696891 5 prime UTR variant A/C snv 0.50 0.010 1.000 1 2017 2017