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: rs17841327
rs17841327
SLC6A2
1 16 55660341 intron variant A/C snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs3766246
rs3766246
FAAH
2 1 46399999 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs9658498
rs9658498
NOS1
1 12 117230720 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 0.500 2 2011 2012
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: rs1057518925
rs1057518925
COL6A2
4 1.000 0.120 21 46114006 splice acceptor variant A/G snv 0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1555366607
rs1555366607
SPTB
5 1.000 0.080 14 64767787 missense variant A/G snv 0.700 0
dbSNP: rs551423795
rs551423795
MUSK
4 0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2012 2018
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2295633
rs2295633
FAAH
7 0.827 0.120 1 46408711 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs4719714
rs4719714
STEAP1B
5 1.000 0.080 7 22721094 intron variant A/T snv 0.21 0.010 1.000 1 2010 2010
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1057523354
rs1057523354
COL4A1
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs1555889984
rs1555889984
RUNX1
5 0.925 0.120 21 34834536 stop gained C/A snv 0.700 0
dbSNP: rs949060
rs949060 		1 18 77246982 upstream gene variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1042718
rs1042718
ADRB2
3 0.925 0.080 5 148827354 missense variant C/A;T snv 0.23; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs36010656
rs36010656
SLCO1C1
4 0.925 0.080 12 20711408 missense variant C/A;T snv 3.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs9332377
rs9332377
ARVCF ; COMT
5 0.882 0.120 22 19968169 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1553315329
rs1553315329
SPAST
3 2 32116153 stop gained C/A;T snv 0.700 0
dbSNP: rs181109321
rs181109321
TTPA
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0