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: rs768963
rs768963
CACTIN
2 0.925 0.120 19 3615409 non coding transcript exon variant G/A;C snv 0.030 1.000 3 2006 2015
dbSNP: rs10304
rs10304
SMTN ; SELENOM
2 0.925 0.120 22 31104550 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs1044006
rs1044006
NOTCH3
1 1.000 0.120 19 15174241 synonymous variant T/A;C snv 0.86 0.010 1.000 1 2016 2016
dbSNP: rs1044009
rs1044009
NOTCH3
1 1.000 0.120 19 15160960 missense variant G/A snv 0.71 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1057335
rs1057335
SERPINF2
5 0.827 0.120 17 1754359 missense variant G/A snv 0.22 0.20 0.010 1.000 1 2019 2019
dbSNP: rs10780199
rs10780199
CACNA1B
1 1.000 0.120 9 138058845 intron variant G/A snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs10898909
rs10898909
P2RY2
2 0.925 0.120 11 73241451 non coding transcript exon variant G/A snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs11137351
rs11137351
CACNA1B ; LOC101928786
1 1.000 0.120 9 138045676 intron variant C/G snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs1207570776
rs1207570776
DNAJC10
1 1.000 0.120 2 182757711 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs12659
rs12659
SLC19A1
2 0.925 0.120 21 45531642 synonymous variant A/G snv 0.58 0.57 0.010 1.000 1 2015 2015
dbSNP: rs13412
rs13412
P3H4 ; FKBP10
1 1.000 0.120 17 41811190 missense variant T/A;C snv 0.38 0.34 0.010 1.000 1 2019 2019
dbSNP: rs147377392
rs147377392
THBD
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.010 1.000 1 2004 2004
dbSNP: rs2072592
rs2072592
IGF1 ; LINC02456
2 0.925 0.120 12 102419854 intron variant C/T snv 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs2077777
rs2077777
RBPJ
1 1.000 0.120 4 26322296 splice region variant G/C snv 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs2270226
rs2270226
RBPJ
1 1.000 0.120 4 26415514 missense variant T/A;C;G snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs2271875
rs2271875
CACTIN
1 1.000 0.120 19 3626924 upstream gene variant T/C snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs2275235
rs2275235
CTSS
1 1.000 0.120 1 150757803 intron variant A/G snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs2278986
rs2278986
SCARB1
2 0.925 0.120 12 124814823 intron variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs35364374
rs35364374
RYR1
1 1.000 0.120 19 38492540 missense variant G/T snv 6.9E-02 5.0E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs3731245
rs3731245
CDKN2A
2 0.925 0.120 9 21972446 intron variant C/T snv 6.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs3754701
rs3754701
RAMP1
4 0.882 0.120 2 237858561 upstream gene variant A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3769048
rs3769048
RAMP1
2 0.925 0.120 2 237861218 intron variant G/A snv 2.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs4147064
rs4147064
ALOX5AP
2 1.000 0.120 13 30745981 intron variant T/C snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs4382936
rs4382936
P2RY2
1 1.000 0.120 11 73241355 non coding transcript exon variant A/C snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs4769055
rs4769055
ALOX5AP
1 1.000 0.120 13 30735693 intron variant C/A snv 0.41 0.47 0.010 1.000 1 2008 2008