Source: CURATED ×
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: rs993804
rs993804
RARB
2 3 25070680 intron variant C/T snv 0.75 0.800 1.000 1 2010 2010
dbSNP: rs9834970
rs9834970 		5 0.790 0.080 3 36814539 downstream gene variant T/C snv 0.45 0.700 1.000 1 2014 2014
dbSNP: rs886424
rs886424
LINC00243
10 0.776 0.320 6 30814225 non coding transcript exon variant C/T snv 7.1E-02 8.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs802568
rs802568
CNTNAP2
2 0.925 0.040 7 146262151 intron variant T/G snv 0.17 0.800 1.000 1 2010 2010
dbSNP: rs802524
rs802524
CNTNAP2
2 7 146254550 intron variant T/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs7872515
rs7872515
SPTLC1
4 0.925 0.040 9 92060258 intron variant G/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs7727102
rs7727102 		2 5 4720472 intron variant G/C snv 0.32 0.800 1.000 1 2010 2010
dbSNP: rs7600871
rs7600871
NCKAP5
2 2 133257389 intron variant C/T snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs7248363
rs7248363
PGPEP1
2 19 18357076 intron variant T/C snv 0.74 0.800 1.000 1 2010 2010
dbSNP: rs7219021
rs7219021
TTLL6
4 0.925 0.040 17 48763179 intron variant T/G snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs7065696
rs7065696
PHF8
2 X 53947621 intron variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs6627057
rs6627057 		2 X 145059799 downstream gene variant T/G snv 0.16 0.800 1.000 1 2010 2010
dbSNP: rs6484218
rs6484218
AMPD3 ; CAND1.11
4 0.882 0.040 11 10369034 intron variant G/A snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs6444931
rs6444931
CLDN11
2 3 170445686 intron variant G/A snv 0.85 0.800 1.000 1 2010 2010
dbSNP: rs6046396
rs6046396
RIN2
2 20 19871859 non coding transcript exon variant G/A snv 0.68 0.800 1.000 1 2010 2010
dbSNP: rs6024905
rs6024905
BPI
2 20 38329435 intron variant G/A snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs4996815
rs4996815 		2 13 105999312 intron variant G/T snv 0.61 0.800 1.000 1 2010 2010
dbSNP: rs4949526
rs4949526 		3 1.000 0.040 1 29959372 intergenic variant T/C snv 0.54 0.800 1.000 1 2010 2010
dbSNP: rs4813376
rs4813376
RIN2
2 20 19870811 intron variant T/G snv 0.86 0.700 1.000 1 2010 2010
dbSNP: rs4650608
rs4650608 		7 0.851 0.040 1 78772330 intergenic variant T/C snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs4356203
rs4356203
PIK3C2A
4 0.925 0.040 11 17138601 intron variant A/G snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs2841307
rs2841307 		2 6 100308811 intergenic variant C/T snv 0.20 0.800 1.000 1 2010 2010
dbSNP: rs2524005
rs2524005
HLA-A
5 0.882 0.160 6 29931900 upstream gene variant G/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs2509843
rs2509843 		2 11 98254676 intergenic variant A/C;G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs2155907
rs2155907 		2 11 98223945 intergenic variant C/T snv 0.38 0.700 1.000 1 2010 2010