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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs4806942
rs4806942
GIPC3
1 1.000 0.120 19 3589341 intron variant G/A snv 0.13 0.010 1.000 1 2006 2006
dbSNP: rs4919862
rs4919862
BSG
1 1.000 0.120 19 582253 intron variant T/C snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs4944832
rs4944832
P2RY2
1 1.000 0.120 11 73238127 upstream gene variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs494860
rs494860
PROZ ; PCID2
1 1.000 0.120 13 113164695 intron variant T/A snv 0.26 0.19 0.010 1.000 1 2018 2018
dbSNP: rs56095120
rs56095120
SMTN
1 1.000 0.120 22 31100540 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs5997872
rs5997872
SMTN
1 1.000 0.120 22 31095346 missense variant C/T snv 0.14 0.16 0.010 1.000 1 2012 2012
dbSNP: rs7042521
rs7042521
CACNA1B ; LOC100133077
1 1.000 0.120 9 137889440 intron variant C/G snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs755403632
rs755403632
BMS1
1 1.000 0.120 10 42792991 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs774320676
rs774320676
CTSS
1 1.000 0.120 1 150750091 missense variant A/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs928508030
rs928508030
CTSS
1 1.000 0.120 1 150765698 splice region variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs9621187
rs9621187
SMTN
1 1.000 0.120 22 31103532 non coding transcript exon variant A/G snv 0.35 0.010 1.000 1 2012 2012
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