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: rs880315
rs880315
CASZ1
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.700 1.000 2 2015 2018
dbSNP: rs10745332
rs10745332
CAPZA1
3 1 112646431 intron variant G/A snv 0.77 0.700 1.000 1 2015 2015
dbSNP: rs10776752
rs10776752
WNT2B
4 1 112501706 intron variant G/T snv 8.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs12046278
rs12046278
CASZ1
3 1 10739520 intron variant T/C snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs12063100
rs12063100 		3 1 188865413 downstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12129649
rs12129649
MOV10
4 1 112688881 5 prime UTR variant G/T snv 6.6E-02 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: rs2226284
rs2226284
LRRC7
1 1 69869999 intron variant T/C;G snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs2820037
rs2820037 		2 1.000 0.040 1 239273242 intergenic variant A/T snv 0.21 0.800 1.000 1 2007 2007
dbSNP: rs2932538
rs2932538
MOV10
4 1 112673921 intron variant A/C;G snv 0.810 1.000 1 2011 2013
dbSNP: rs3790604
rs3790604
WNT2B
5 1 112504257 intron variant C/A snv 7.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs4463623
rs4463623 		1 1 188331737 intergenic variant C/T snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs61824877
rs61824877
LINC00862
3 1 200273504 intron variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs659580
rs659580
PRRX1
1 1 170664755 intron variant T/C snv 0.81 0.700 1.000 1 2012 2012
dbSNP: rs7526425
rs7526425 		1 1 211527316 regulatory region variant G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs9943291
rs9943291
HMGCS2
3 1 119749667 intron variant T/G snv 8.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs142433332
rs142433332
DARS2
14 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 0.700 0
dbSNP: rs1553201258
rs1553201258
DARS2
14 0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 0.700 0
dbSNP: rs1557551678
rs1557551678
CLDN19
9 0.882 0.160 1 42738421 missense variant C/A snv 0.700 0
dbSNP: rs2230288
rs2230288
GBA
11 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
dbSNP: rs10184428
rs10184428 		5 2 164155317 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs10188442
rs10188442
GPR39
1 2 132431666 intron variant C/T snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs10496288
rs10496288 		1 2 83065441 intergenic variant T/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs10496289
rs10496289 		1 2 83066256 intergenic variant C/T snv 0.13 0.700 1.000 1 2011 2011
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