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: rs312262690
rs312262690
ANTXR2
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs113296370
rs113296370
PLEKHH2
3 1.000 0.040 2 43636315 upstream gene variant A/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs17030613
rs17030613
CAPZA1
7 1 112648185 intron variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs403814
rs403814
L3MBTL4
1 18 6282594 intron variant A/C snv 0.27 0.710 1.000 1 2016 2016
dbSNP: rs4387287
rs4387287
STN1
3 10 103918139 5 prime UTR variant A/C snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs4686340
rs4686340
SRGAP3
2 3 9303534 intron variant A/C snv 0.80 0.700 1.000 1 2012 2012
dbSNP: rs4833103
rs4833103
TLR1
4 0.925 0.160 4 38813881 intron variant A/C snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs8098380
rs8098380
YES1
4 18 721563 downstream gene variant A/C snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs2932538
rs2932538
MOV10
4 1 112673921 intron variant A/C;G snv 0.810 1.000 1 2011 2013
dbSNP: rs6418
rs6418
CYP11B2 ; GML
4 8 142914947 intron variant A/C;G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs7006531
rs7006531 		3 8 94098516 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs12715461
rs12715461
CACNA1D
1 3 53544856 intron variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1859168
rs1859168
HOTTIP
4 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2521501
rs2521501
FES
10 0.925 0.080 15 90894158 intron variant A/C;T snv 0.800 1.000 1 2011 2011
dbSNP: rs13333226
rs13333226
UMOD
7 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.810 1.000 2 2010 2016
dbSNP: rs2681472
rs2681472
ATP2B1
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.860 1.000 2 2009 2019
dbSNP: rs28933386
rs28933386
PTPN11
14 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
dbSNP: rs820430
rs820430 		3 3 27507409 regulatory region variant A/G snv 0.30 0.710 1.000 2 2015 2018
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
8 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.760 0.857 1 2011 2018
dbSNP: rs10279895
rs10279895 		1 7 27288591 intergenic variant A/G snv 2.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs11067763
rs11067763
LOC105370003
3 12 115760536 intron variant A/G snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs11124945
rs11124945
PLEKHH2
3 1.000 0.040 2 43650017 intron variant A/G snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs11230728
rs11230728
LRRC10B
1 11 61510226 3 prime UTR variant A/G snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs1173771
rs1173771 		8 5 32814922 regulatory region variant A/G snv 0.65 0.800 1.000 1 2011 2011
dbSNP: rs12579302
rs12579302
ATP2B1
19 0.851 0.120 12 89656726 intron variant A/G snv 0.15 0.700 1.000 1 2018 2018