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: rs2841307
rs2841307 		2 6 100308811 intergenic variant C/T snv 0.20 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
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: rs4996815
rs4996815 		2 13 105999312 intron variant G/T snv 0.61 0.800 1.000 1 2010 2010
dbSNP: rs2018368
rs2018368 		2 11 10718819 intergenic variant C/G snv 0.59 0.800 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: rs11789399
rs11789399
LOC105376249
2 0.882 0.040 9 118597008 intergenic variant G/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs11789407
rs11789407
LOC105376249
2 9 118597268 intergenic variant C/A snv 0.44 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: rs7600871
rs7600871
NCKAP5
2 2 133257389 intron variant C/T snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs6627057
rs6627057 		2 X 145059799 downstream gene variant T/G snv 0.16 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: 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: rs10949808
rs10949808 		2 7 156255955 intergenic variant T/G snv 0.45 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: rs6444931
rs6444931
CLDN11
2 3 170445686 intron variant G/A snv 0.85 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: 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: 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: rs12282742
rs12282742
SAA2 ; SAA2-SAA4
2 11 18244252 intron variant C/G;T snv 0.800 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: 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: rs4813376
rs4813376
RIN2
2 20 19870811 intron variant T/G snv 0.86 0.700 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: rs1006737
rs1006737
CACNA1C
7 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.750 1.000 1 2014 2018