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: rs9911652
rs9911652
NTN1
2 0.925 0.120 17 9039746 intron variant C/T snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs957448
rs957448
VIRMA
2 0.925 0.120 8 94529074 synonymous variant A/G;T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs9545308
rs9545308 		2 0.925 0.120 13 80065270 intron variant G/T snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs9439714
rs9439714
PAX7
3 0.882 0.120 1 18649995 intron variant T/C snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs9439713
rs9439713
PAX7
3 0.882 0.120 1 18646282 intron variant G/A snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs9381107
rs9381107 		2 0.925 0.120 6 9469005 intergenic variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs908822
rs908822 		2 0.925 0.120 4 123985102 regulatory region variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs8179096
rs8179096
TIMP2
4 0.851 0.200 17 78925567 upstream gene variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs8049367
rs8049367 		4 0.851 0.240 16 3930444 downstream gene variant T/C snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs8001641
rs8001641
LOC105370275
2 0.925 0.120 13 80118676 non coding transcript exon variant G/A snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs80004662
rs80004662
LOC102724542
1 1.000 0.120 2 81798061 intergenic variant A/G snv 6.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.020 1.000 2 2002 2013
dbSNP: rs7871395
rs7871395 		2 0.925 0.120 9 89594672 intron variant C/T snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs78212183
rs78212183
DEPDC5
2 0.925 0.120 22 31817998 intron variant T/C snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs77866552
rs77866552 		2 0.925 0.120 2 232687954 regulatory region variant G/A;C snv 1.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs7692299
rs7692299
LINC01091
2 0.925 0.120 4 123789429 intron variant C/T snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs7650466
rs7650466
EPHA3
7 0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs76479869
rs76479869
TP63
3 0.882 0.120 3 189835583 intron variant C/T snv 4.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs7566780
rs7566780 		3 0.882 0.120 2 16548089 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs7554547
rs7554547 		2 0.925 0.120 1 11913831 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7552
rs7552
CYRIA
3 0.882 0.120 2 16552660 splice region variant A/G snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs75477785
rs75477785 		2 0.925 0.120 1 209811125 upstream gene variant T/G snv 3.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs74819164
rs74819164 		1 1.000 0.120 2 147748280 intergenic variant A/G snv 7.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs742071
rs742071
PAX7
2 0.925 0.120 1 18653380 intron variant G/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs739439
rs739439
SARM1 ; SLC46A1
5 0.851 0.200 17 28396803 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2016 2016