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: rs1537377
rs1537377 		1 1.000 0.040 9 22169701 regulatory region variant T/C snv 0.44 0.810 1.000 2 2012 2017
dbSNP: rs6907340
rs6907340
LOC100506885
1 1.000 0.040 6 19803537 non coding transcript exon variant C/T snv 0.47 0.800 1.000 2 2012 2013
dbSNP: rs7521902
rs7521902
LOC105376850
3 1.000 0.040 1 22164231 intergenic variant C/A snv 0.22 0.850 1.000 2 2012 2017
dbSNP: rs10129516
rs10129516
LOC105370531
1 1.000 0.040 14 63133372 intron variant T/A;C snv 0.710 < 0.001 1 2017 2017
dbSNP: rs10131751
rs10131751 		1 1.000 0.040 14 28212010 intergenic variant C/A snv 9.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs10167914
rs10167914 		1 1.000 0.040 2 112805784 TF binding site variant A/G snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs10282436
rs10282436
LOC100506236
1 1.000 0.040 7 25833490 upstream gene variant G/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs10419023
rs10419023
GRIN2D
1 1.000 0.040 19 48427965 intron variant C/T snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs10508881
rs10508881 		1 1.000 0.040 10 44046117 regulatory region variant A/G snv 0.50 0.800 1.000 1 2013 2013
dbSNP: rs1055144
rs1055144
LOC100506236
3 1.000 0.040 7 25831489 non coding transcript exon variant C/T snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs10777670
rs10777670
FGD6
1 1.000 0.040 12 95181055 intron variant G/A snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs10859856
rs10859856
VEZT
1 1.000 0.040 12 95237500 intron variant T/C snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs10859871
rs10859871 		1 1.000 0.040 12 95318100 intron variant A/C snv 0.37 0.850 1.000 1 2012 2017
dbSNP: rs10917151
rs10917151
CDC42
3 0.925 0.040 1 22096228 3 prime UTR variant G/A snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs10965235
rs10965235
CDKN2B-AS1
1 1.000 0.040 9 22115106 intron variant C/A snv 0.15 0.820 1.000 1 2010 2014
dbSNP: rs10975519
rs10975519
IL33 ; LOC107987046
1 1.000 0.040 9 6253571 synonymous variant C/T snv 0.38 0.35 0.800 1.000 1 2013 2013
dbSNP: rs11085835
rs11085835
CACNA1A
1 1.000 0.040 19 13221196 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11132055
rs11132055
LOC107986205
1 1.000 0.040 4 181401652 intergenic variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs113850637
rs113850637 		1 1.000 0.040 3 104131556 intergenic variant C/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs116175374
rs116175374
CAPN14
1 1.000 0.040 2 31202319 intron variant G/A snv 4.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs116250606
rs116250606
CALHM3
1 1.000 0.040 10 103473496 missense variant C/T snv 6.5E-06; 4.1E-03 2.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs11674184
rs11674184
GREB1
1 1.000 0.040 2 11581409 intron variant T/A;G snv 0.710 0.500 1 2017 2019
dbSNP: rs11692361
rs11692361
MEIS1
1 1.000 0.040 2 66496567 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12037376
rs12037376
WNT4
3 0.925 0.040 1 22135618 intron variant G/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs12449465
rs12449465
OR1G1
1 1.000 0.040 17 3126260 downstream gene variant T/A;C snv 0.800 1.000 1 2013 2013