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: rs12726299
rs12726299
SLC22A15
1 1.000 0.040 1 115983051 intron variant G/A snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs13166776
rs13166776 		1 1.000 0.040 5 25971247 intron variant T/C snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs13176113
rs13176113 		1 1.000 0.040 5 25900331 intergenic variant G/A snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs13187934
rs13187934 		1 1.000 0.040 5 25902259 intergenic variant C/T snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs1346536
rs1346536 		1 1.000 0.040 5 25915543 downstream gene variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1408744
rs1408744 		1 1.000 0.040 6 23789887 intergenic variant A/G snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs14135
rs14135
MACROD2 ; MACROD2-AS1
1 1.000 0.040 20 14884510 non coding transcript exon variant T/C snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs1429793
rs1429793
NELL1 ; LOC105376585
1 1.000 0.040 11 20904710 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1475531
rs1475531
MACROD2 ; MACROD2-AS1
1 1.000 0.040 20 14886776 intron variant G/T snv 0.62 0.700 1.000 1 2012 2012
dbSNP: rs16919315
rs16919315
TMEM132B
1 1.000 0.040 12 125599817 intron variant C/A;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs17007739
rs17007739 		1 1.000 0.040 4 83920097 intron variant T/G snv 0.38 0.700 1.000 1 2012 2012
dbSNP: rs17134117
rs17134117
SDK1
1 1.000 0.040 7 3991432 intron variant C/T snv 9.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs1718101
rs1718101
CNTNAP2
1 1.000 0.040 7 146425696 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs17482975
rs17482975 		1 1.000 0.040 5 25901499 intergenic variant C/T snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs1879532
rs1879532
ERBB4
1 1.000 0.040 2 211574587 intron variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1895729
rs1895729 		1 1.000 0.040 11 107113002 intergenic variant G/A snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs1896731
rs1896731 		1 1.000 0.040 5 25898911 intergenic variant T/C snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs1930165
rs1930165
PCDH15 ; LOC105378311
1 1.000 0.040 10 54542170 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1936295
rs1936295 		1 1.000 0.040 10 117902581 intergenic variant T/C snv 0.83 0.700 1.000 1 2012 2012
dbSNP: rs2000813
rs2000813
LIPG
1 0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23 0.700 1.000 1 2012 2012
dbSNP: rs2056412
rs2056412
FAM135B
1 1.000 0.040 8 138401090 intron variant T/C snv 0.14 0.700 1.000 1 2013 2013
dbSNP: rs2150291
rs2150291
SYNE2
1 1.000 0.040 14 63864705 intron variant T/C snv 0.81 0.700 1.000 1 2012 2012
dbSNP: rs263025
rs263025
YEATS2 ; YEATS2-AS1
1 1.000 0.040 3 183809830 intron variant T/C snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs263030
rs263030
YEATS2 ; YEATS2-AS1
1 1.000 0.040 3 183807333 non coding transcript exon variant A/G snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs263035
rs263035
YEATS2
1 1.000 0.040 3 183805869 intron variant A/G snv 0.44 0.700 1.000 1 2012 2012