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: rs187585530
rs187585530
UBE4B
1 1.000 0.080 1 10107367 missense variant G/A snv 2.4E-03 2.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs3822259
rs3822259
WDR1
1 1.000 0.080 4 10117121 upstream gene variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1044258
rs1044258
ARMH3 ; LOC107984029
2 1.000 0.080 10 101845957 3 prime UTR variant T/C snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs10786662
rs10786662
PITX3 ; ELOVL3
2 1.000 0.080 10 102230055 downstream gene variant G/C snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs13114738
rs13114738
SLC39A8
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10006327
rs10006327
SLC9B1
1 1.000 0.080 4 102969823 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs3960788
rs3960788
SLC9B1
1 1.000 0.080 4 102994461 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs55693294
rs55693294
NEURL1 ; NEURL1-AS1
1 1.000 0.080 10 103517717 intron variant C/T snv 4.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs6584555
rs6584555
NEURL1
1 1.000 0.080 10 103539854 intron variant T/C snv 0.27 0.740 0.800 5 2016 2019
dbSNP: rs60848348
rs60848348
NEURL1
1 1.000 0.080 10 103562124 intron variant C/T snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs60572254
rs60572254
NEURL1
1 1.000 0.080 10 103565017 intron variant C/T snv 0.700 1.000 2 2017 2018
dbSNP: rs11598047
rs11598047
NEURL1
1 1.000 0.080 10 103582915 non coding transcript exon variant A/G snv 0.16 0.700 1.000 3 2017 2018
dbSNP: rs2047036
rs2047036
SH3PXD2A
1 1.000 0.080 10 103717405 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs35176054
rs35176054
SH3PXD2A
1 1.000 0.080 10 103720629 intron variant T/A snv 0.11 0.700 1.000 4 2017 2018
dbSNP: rs4743034
rs4743034
ZNF462
3 1.000 0.080 9 106870072 intron variant G/A snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs6596717
rs6596717 		1 1.000 0.080 5 107091908 intergenic variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs62483627
rs62483627
COG5
1 1.000 0.080 7 107215557 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs284277
rs284277
CASZ1
1 1.000 0.080 1 10730740 intron variant C/A snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs880315
rs880315
CASZ1
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs629301
rs629301
CELSR2
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs1364685385
rs1364685385
ACSL4 ; KCNE5
1 1.000 0.080 X 109624828 missense variant G/A snv 9.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs244017
rs244017 		1 1.000 0.080 4 110334761 intergenic variant G/T snv 0.81 0.700 1.000 1 2018 2018
dbSNP: rs1860561
rs1860561
ATP2A2
5 0.851 0.080 12 110345436 intron variant G/A snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs61501369
rs61501369
PANCR
1 1.000 0.080 4 110603473 intron variant C/T snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs138163892
rs138163892
PITX2
2 0.925 0.080 4 110618481 missense variant T/C snv 2.8E-04 2.3E-04 0.010 1.000 1 2019 2019