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: rs17693963
rs17693963 		5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs2509843
rs2509843 		2 11 98254676 intergenic variant A/C;G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs11740562
rs11740562
ADAM19
2 5 157515277 intron variant A/G snv 7.1E-02 0.800 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: 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: rs17645023
rs17645023 		2 1.000 0.040 17 66920916 intergenic variant A/T snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs11789407
rs11789407
LOC105376249
2 9 118597268 intergenic variant C/A snv 0.44 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: rs2018368
rs2018368 		2 11 10718819 intergenic variant C/G snv 0.59 0.800 1.000 1 2010 2010
dbSNP: rs12282742
rs12282742
SAA2 ; SAA2-SAA4
2 11 18244252 intron variant C/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs7065696
rs7065696
PHF8
2 X 53947621 intron variant C/G;T snv 0.800 1.000 1 2011 2011
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: 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: rs1992045
rs1992045
LINC01602 ; LOC105375856
2 8 57928365 intron variant C/T snv 0.14 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
dbSNP: rs2841307
rs2841307 		2 6 100308811 intergenic variant C/T snv 0.20 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: 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: rs993804
rs993804
RARB
2 3 25070680 intron variant C/T snv 0.75 0.800 1.000 1 2010 2010
dbSNP: rs1006737
rs1006737
CACNA1C
7 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.750 1.000 1 2014 2018
dbSNP: rs1009080
rs1009080 		2 1 29958713 intergenic variant G/A snv 0.54 0.700 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: rs11164835
rs11164835
DIPK1A
2 1 92913536 intron variant G/A snv 0.35 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: rs2044117
rs2044117
NALCN ; NALCN-AS1
2 13 101055958 intron variant G/A snv 0.19 0.800 1.000 1 2010 2010