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: rs199682734
rs199682734
OPRM1
1 6 154118718 synonymous variant C/T snv 8.1E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2287396
rs2287396
GSTZ1
1 14 77327849 non coding transcript exon variant C/T snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs3740071
rs3740071
ABCC2
1 10 99830363 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs570874680
rs570874680
PRKAA1
1 5 40764955 missense variant G/A snv 7.2E-05 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs574584
rs574584
ADRA1A
1 8 26866167 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs949060
rs949060 		1 18 77246982 upstream gene variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs9658498
rs9658498
NOS1
1 12 117230720 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs11214105
rs11214105
TEX12 ; LOC107987164
2 1.000 0.120 11 112166930 intron variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs2293052
rs2293052
NOS1
2 1.000 0.040 12 117277815 intron variant G/A snv 0.28 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: rs3783642
rs3783642
GCH1
2 14 54893485 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs9524885
rs9524885
ABCC4
2 13 95283335 intron variant T/C snv 0.63 0.010 1.000 1 2012 2012
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: rs387907170
rs387907170
ETFDH
3 0.925 0.080 4 158703436 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1553315329
rs1553315329
SPAST
3 2 32116153 stop gained C/A;T snv 0.700 0
dbSNP: rs756877019
rs756877019
MUSK
3 1.000 9 110800760 missense variant G/C snv 4.0E-06 0.700 0
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: rs1057518925
rs1057518925
COL6A2
4 1.000 0.120 21 46114006 splice acceptor 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: rs267606640
rs267606640
AGL
5 0.882 0.120 1 99913557 stop gained G/A snv 5.6E-05 5.6E-05 0.010 1.000 1 2008 2008
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: 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: rs1555366607
rs1555366607
SPTB
5 1.000 0.080 14 64767787 missense variant A/G snv 0.700 0
dbSNP: rs1555889984
rs1555889984
RUNX1
5 0.925 0.120 21 34834536 stop gained C/A snv 0.700 0