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: rs148789453
rs148789453
IDUA
4 0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06 0.020 1.000 2 2014 2019
dbSNP: rs2841307
rs2841307 		2 6 100308811 intergenic variant C/T snv 0.20 0.800 1.000 1 2010 2010
dbSNP: rs2044117
rs2044117
NALCN ; NALCN-AS1
2 13 101055958 intron variant G/A snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs736707
rs736707
RELN ; LOC101927870
6 0.851 0.040 7 103489956 intron variant A/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs6484218
rs6484218
AMPD3 ; CAND1.11
5 0.882 0.040 11 10369034 intron variant G/A snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs7341475
rs7341475
RELN
6 0.851 0.240 7 103764368 intron variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs4996815
rs4996815 		2 13 105999312 intron variant G/T snv 0.61 0.800 1.000 1 2010 2010
dbSNP: rs2018368
rs2018368 		2 11 10718819 intergenic variant C/G snv 0.59 0.800 1.000 1 2010 2010
dbSNP: rs17069122
rs17069122 		2 6 108002555 downstream gene variant G/A snv 1.9E-02 0.800 1.000 1 2010 2010
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 < 0.001 1 2019 2019
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2009 2009
dbSNP: rs6277
rs6277
DRD2
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2010 2010
dbSNP: rs1801028
rs1801028
DRD2
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.020 1.000 2 1996 2010
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2014 2014
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.030 0.667 3 1999 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2006 2012
dbSNP: rs3135932
rs3135932
IL10RA
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2007 2007
dbSNP: rs2229113
rs2229113
IL10RA
10 0.763 0.360 11 117998955 missense variant A/G snv 0.74 0.74 0.010 1.000 1 2007 2007
dbSNP: rs11789399
rs11789399
LOC105376249
5 0.882 0.040 9 118597008 intergenic variant G/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs11789407
rs11789407
LOC105376249
2 9 118597268 intergenic variant C/A snv 0.44 0.700 1.000 1 2010 2010
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs12305135
rs12305135
FZD10-AS1
2 1.000 0.080 12 130150660 non coding transcript exon variant T/C snv 6.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs10496702
rs10496702
NCKAP5
2 2 133247997 intron variant G/A snv 0.18 0.800 1.000 1 2010 2010