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: rs1009080
rs1009080 		2 1 29958713 intergenic variant G/A snv 0.54 0.700 1.000 1 2010 2010
dbSNP: rs11164835
rs11164835
DIPK1A
2 1 92913536 intron variant G/A snv 0.35 0.700 1.000 1 2010 2010
dbSNP: rs12745968
rs12745968
DIPK1A
2 1 92936280 intron variant A/G snv 0.36 0.800 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: rs4949526
rs4949526 		3 1.000 0.040 1 29959372 intergenic variant T/C snv 0.54 0.800 1.000 1 2010 2010
dbSNP: rs10496702
rs10496702
NCKAP5
2 2 133247997 intron variant G/A snv 0.18 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: rs17075286
rs17075286 		2 3 43189231 intergenic variant C/G snv 5.9E-02 0.800 1.000 1 2011 2011
dbSNP: rs2054399
rs2054399
KCNMB2 ; KCNMB2-AS1
4 0.925 0.040 3 178623794 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs6444931
rs6444931
CLDN11
2 3 170445686 intron variant G/A snv 0.85 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: rs993804
rs993804
RARB
2 3 25070680 intron variant C/T snv 0.75 0.800 1.000 1 2010 2010
dbSNP: rs17746001
rs17746001 		4 0.925 0.040 4 179734472 intergenic variant C/T snv 5.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs11740562
rs11740562
ADAM19
2 5 157515277 intron variant A/G snv 7.1E-02 0.800 1.000 1 2010 2010
dbSNP: rs7727102
rs7727102 		2 5 4720472 intron variant G/C snv 0.32 0.800 1.000 1 2010 2010
dbSNP: rs12201676
rs12201676 		2 0.925 0.040 6 89022382 regulatory region variant T/C snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs12527359
rs12527359 		2 6 89018502 intergenic variant T/A snv 0.23 0.700 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: rs17693963
rs17693963 		5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 1 2014 2014
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: rs2841307
rs2841307 		2 6 100308811 intergenic variant C/T snv 0.20 0.800 1.000 1 2010 2010
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: rs10275045
rs10275045
MAD1L1
5 0.882 0.160 7 1881190 intron variant C/T snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs10949808
rs10949808 		2 7 156255955 intergenic variant T/G snv 0.45 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