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: rs201921722
rs201921722 		3 0.925 0.040 11 123679999 downstream gene variant -/A delins 9.2E-06 0.700 1.000 1 2016 2016
dbSNP: rs34177316
rs34177316
APBB2 ; LOC107986273
3 0.925 0.040 4 40985283 intron variant A/-;AA;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11039409
rs11039409
NUP160
2 1.000 0.040 11 47814169 intron variant A/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs56403421
rs56403421 		2 1.000 0.040 18 55098052 regulatory region variant A/C snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs600011
rs600011
BBX
2 1.000 0.040 3 107576545 intron variant A/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs72788286
rs72788286
ATAD2B
2 1.000 0.040 2 23875451 intron variant A/C snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs77607745
rs77607745 		2 1.000 0.040 13 69001052 intergenic variant A/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs1875560
rs1875560
DCC
2 1.000 0.040 18 53434318 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs9930139
rs9930139
RBFOX1
2 1.000 0.040 16 7239569 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11039149
rs11039149
NR1H3
2 0.827 0.280 11 47255124 intron variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs12068879
rs12068879
KAZN
2 1.000 0.040 1 14959860 intron variant A/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs1261070
rs1261070
TCF4
2 1.000 0.040 18 55235854 intron variant A/G snv 0.94 0.700 1.000 1 2018 2018
dbSNP: rs12938031
rs12938031
LINC02210-CRHR1
4 0.851 0.160 17 45777136 intron variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs12967855
rs12967855
CELF4
2 1.000 0.040 18 37558282 intron variant A/G snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs143405544
rs143405544
ADAMTS6
3 0.925 0.040 5 65459777 intron variant A/G snv 4.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs1560312
rs1560312
MAPT
2 1.000 0.040 17 45901622 intron variant A/G snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs1724422
rs1724422
LINC02210-CRHR1
2 1.000 0.040 17 45699947 intron variant A/G snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs17570807
rs17570807 		2 1.000 0.040 18 37662673 intron variant A/G snv 3.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs17711053
rs17711053
VWC2L
2 1.000 0.040 2 214574984 intron variant A/G snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs182377406
rs182377406 		3 0.925 0.040 11 67449378 upstream gene variant A/G snv 4.5E-04 0.700 1.000 1 2016 2016
dbSNP: rs199505
rs199505
WNT3 ; LRRC37A2
4 0.925 0.120 17 46782044 intron variant A/G snv 0.84 0.700 1.000 1 2018 2018
dbSNP: rs2298489
rs2298489
TTC12
2 1.000 0.040 11 113364697 splice region variant A/G snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs2396133
rs2396133 		2 1.000 0.040 7 109557010 intron variant A/G snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs28893517
rs28893517
GABBR1
2 1.000 0.040 6 29597596 intron variant A/G snv 6.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs34467936
rs34467936 		3 1.000 0.040 11 47893747 intergenic variant A/G snv 0.30 0.700 1.000 1 2018 2018