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: 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: rs1333048
rs1333048
CDKN2B-AS1
10 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs2980853
rs2980853 		16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016
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: rs2542713
rs2542713
C9 ; DAB2
3 1.000 0.040 5 39385539 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs497309
rs497309
C2 ; CYP21A2
4 0.882 0.240 6 31924707 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs6688849
rs6688849 		2 1.000 0.040 1 47530532 intergenic variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10811652
rs10811652
CDKN2B-AS1
4 0.882 0.120 9 22077086 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10224002
rs10224002
PRKAG2
10 0.925 0.080 7 151717955 intron variant A/G snv 0.31 0.700 1.000 1 2018 2018
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: rs12579302
rs12579302
ATP2B1
19 0.851 0.120 12 89656726 intron variant A/G snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs13333226
rs13333226
UMOD
7 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.710 1.000 1 2011 2018
dbSNP: rs17137004
rs17137004
FOXP2
2 1.000 0.040 7 114389196 intron variant A/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs261332
rs261332
LIPC ; ALDH1A2 ; LIPC-AS1
20 0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80 0.700 1.000 1 2016 2016
dbSNP: rs4420638
rs4420638
APOC1
36 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.710 1.000 1 2013 2016
dbSNP: rs4803750
rs4803750
BCL3
22 0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs562338
rs562338 		20 0.807 0.160 2 21065449 intergenic variant A/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs61742093
rs61742093
OR2B2
3 1.000 0.040 6 27912204 missense variant A/G snv 4.8E-02 5.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs6706313
rs6706313 		2 1.000 0.040 2 60311754 regulatory region variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs7632505
rs7632505
SEMA5B
16 0.827 0.120 3 123019460 intron variant A/G snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs1728918
rs1728918 		19 0.827 0.160 2 27412596 upstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4506565
rs4506565
TCF7L2
19 0.790 0.280 10 112996282 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs460976
rs460976 		7 0.851 0.120 21 41463567 downstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7115242
rs7115242
SIK3
16 0.851 0.120 11 117037567 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs74617384
rs74617384
LPA
5 0.925 0.080 6 160576086 intron variant A/G;T snv 0.700 1.000 1 2018 2018