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: rs10103191
rs10103191 		1 8 91890204 intron variant G/A snv 0.58 0.010 1.000 1 2017 2017
dbSNP: rs11123857
rs11123857
NPAS2
2 2 100987350 non coding transcript exon variant A/G snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs1170191
rs1170191
DGKH
1 13 42101357 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1382119307
rs1382119307
CDSN ; PSORS1C1
1 6 31116450 missense variant C/G snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs147634553
rs147634553
ITGA2B
1 17 44383518 synonymous variant G/A;T snv 6.5E-05; 4.1E-06 0.010 1.000 1 2005 2005
dbSNP: rs1653625
rs1653625
P2RX7 ; LOC105370032
1 12 121185082 3 prime UTR variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1657268
rs1657268
HTR5A
1 7 155082904 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs16841143
rs16841143
PTH2R
2 2 208384849 intron variant G/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs16940655
rs16940655
CRHR1 ; MAPT-AS1 ; LINC02210-CRHR1
1 17 45816520 missense variant C/A;T snv 4.0E-06; 6.4E-03 0.010 1.000 1 2013 2013
dbSNP: rs1801206
rs1801206
WFS1
1 4 6300980 stop gained C/G;T snv 0.63 0.010 1.000 1 2005 2005
dbSNP: rs1801213
rs1801213
WFS1
1 4 6291969 synonymous variant C/G snv 0.72 0.68 0.010 1.000 1 2005 2005
dbSNP: rs182087934
rs182087934 		2 2 183742707 intergenic variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1885884
rs1885884
HTR2A ; HTR2A-AS1
2 13 46856141 non coding transcript exon variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2167457
rs2167457
PC
1 11 66874925 intron variant C/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs2230739
rs2230739
ADCY9
1 16 3983435 missense variant T/A;C snv 4.4E-06; 0.29 0.010 < 0.001 1 2002 2002
dbSNP: rs228682
rs228682
PER3
2 1 7796286 intron variant T/C snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs2376803
rs2376803
LOC105378590
1 1 2036515 intergenic variant C/T snv 0.71 0.010 1.000 1 2010 2010
dbSNP: rs2376805
rs2376805
GABRD
1 1 2024923 non coding transcript exon variant G/A snv 0.80 0.81 0.010 1.000 1 2010 2010
dbSNP: rs2640909
rs2640909
PER3
4 1 7830057 missense variant T/C snv 0.14 0.23 0.010 1.000 1 2018 2018
dbSNP: rs28536160
rs28536160
AVPR1B
1 1 206117948 intron variant A/G snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs3794808
rs3794808
SLC6A4
1 17 30204775 intron variant C/T snv 0.43 0.010 1.000 1 2010 2010
dbSNP: rs384005
rs384005
MEF2C-AS2
2 5 88709286 intron variant T/C snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs4131347
rs4131347 		1 12 71930591 downstream gene variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs4554696
rs4554696
PDE4B
2 1 65942328 intron variant C/T snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs571720664
rs571720664
DLG4
2 17 7203556 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017