Source: BEFREE ×
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: rs1880243
rs1880243
STEAP1B
1 1.000 0.040 7 22720036 intron variant C/A snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs1893154
rs1893154
ADCYAP1
2 0.925 0.080 18 905124 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs199472856
rs199472856
KCNH2
1 1.000 0.040 7 150974717 stop gained T/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs199473014
rs199473014
KCNH2
2 0.925 0.120 7 150947684 missense variant G/T snv 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs199473124
rs199473124
SCN5A
2 0.851 0.120 3 38603902 missense variant A/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs199473320
rs199473320
SCN5A
2 0.882 0.120 3 38550878 missense variant G/C snv 6.0E-05 4.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
14 0.742 0.320 12 68156382 intron variant A/G;T snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs2069727
rs2069727
IFNG ; IFNG-AS1
9 0.763 0.320 12 68154443 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2266782
rs2266782
FMO3
7 0.851 0.200 1 171107825 missense variant G/A snv 0.37 0.41 0.010 1.000 1 2010 2010
dbSNP: rs2267734
rs2267734
ADCYAP1R1
1 1.000 0.040 7 31095857 intron variant G/A snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs2302475
rs2302475
ADCYAP1R1
1 1.000 0.040 7 31081886 intron variant T/C snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs368660364
rs368660364
SNTA1
1 1.000 0.040 20 33408748 missense variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs3906956
rs3906956
AQP4 ; AQP4-AS1
1 1.000 0.040 18 26856350 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs4647924
rs4647924
FGFR3
24 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2006 2006
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
264 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2011 2011
dbSNP: rs72466451
rs72466451
HSPD1 ; HSPE1 ; HSPE1-MOB4
1 0.925 0.160 2 197498763 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs72552293
rs72552293
GPD1L
1 0.925 0.120 3 32140231 missense variant A/G snv 2.5E-03 2.9E-03 0.010 1.000 1 2007 2007
dbSNP: rs72878794
rs72878794
AQP4 ; AQP4-AS1
1 1.000 0.040 18 26866839 intron variant C/A;T snv 8.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs758995
rs758995
ADCYAP1R1
1 1.000 0.040 7 31064948 intron variant G/A snv 0.12 0.17 0.010 1.000 1 2013 2013
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs77931234
rs77931234
ACADM
3 0.925 0.120 1 75761161 missense variant A/C;G snv 3.3E-03 0.010 1.000 1 1996 1996