Source: ALL
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: rs150109621
rs150109621
CELSR1
3 1.000 0.040 22 46429532 intron variant C/T snv 5.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs150381023
rs150381023
CELSR1
3 1.000 0.040 22 46423108 intron variant T/C snv 5.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs535263906
rs535263906
CELSR1
3 1.000 0.040 22 46422493 intron variant G/A snv 8.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs220299
rs220299
UMODL1
2 21 42082652 intron variant C/T snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs6127471
rs6127471
KIAA1755
1 20 38215636 intron variant C/T snv 0.40 0.800 1.000 1 2013 2013
dbSNP: rs8105292
rs8105292
LINC01782
3 1.000 0.040 19 32103916 non coding transcript exon variant T/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs144303414
rs144303414 		3 1.000 0.040 18 48509413 intergenic variant A/C snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs3730662
rs3730662
POLI
1 18 54268905 non coding transcript exon variant C/T snv 2.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs3730810
rs3730810
POLI
1 18 54292131 intron variant T/C snv 2.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs11645781
rs11645781
RBFOX1
1 16 6846127 intron variant A/C;G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs148133894
rs148133894 		3 1.000 0.040 16 24584678 intergenic variant T/C snv 2.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs149322277
rs149322277
CA5A
3 1.000 0.040 16 87925065 intron variant C/T snv 5.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs4489968
rs4489968 		2 1.000 0.080 15 73373165 upstream gene variant T/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs365990
rs365990
MYH6
4 1.000 0.080 14 23392602 missense variant A/G snv 0.34 0.45 0.800 1.000 2 2010 2013
dbSNP: rs10142635
rs10142635
EGLN3
1 14 34423401 intron variant A/G snv 3.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs113235453
rs113235453
NUBPL
3 1.000 0.040 14 31849939 intron variant A/G snv 3.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs17180489
rs17180489
RGS6 ; LOC105370559
2 14 72418763 intron variant G/C snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs17796783
rs17796783 		1 14 85343567 intergenic variant T/C snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs61945053
rs61945053 		3 1.000 0.040 13 27021678 upstream gene variant G/A snv 2.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs11065706
rs11065706
PPP1CC
1 12 110717726 downstream gene variant T/C snv 0.19 0.800 1.000 1 2013 2013
dbSNP: rs11110004
rs11110004
ANKS1B
3 1.000 0.040 12 99694540 intron variant T/C snv 5.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs1368578
rs1368578
NAP1L1
2 12 76083176 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs17117817
rs17117817 		1 12 55629199 intergenic variant T/G snv 1.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs17287293
rs17287293
LOC105369698
4 1.000 0.080 12 24617944 intergenic variant A/G snv 0.12 0.800 1.000 1 2013 2013
dbSNP: rs2067615
rs2067615
RFX4 ; LOC100287944
1 12 106755644 intron variant A/T snv 0.63 0.800 1.000 1 2013 2013