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: rs1178979
rs1178979
BAZ1B
6 0.925 0.120 7 73442100 3 prime UTR variant T/C snv 0.21 0.800 1.000 2 2010 2017
dbSNP: rs17310467
rs17310467
GSS ; MYH7B
2 20 34957813 intron variant A/G;T snv 0.800 1.000 2 2010 2012
dbSNP: rs4233583
rs4233583
MAP3K2
2 2 127302492 3 prime UTR variant C/A snv 0.34 0.800 1.000 2 2010 2017
dbSNP: rs4321325
rs4321325
CYP27C1
2 2 127193421 intron variant C/T snv 0.17 0.800 1.000 2 2010 2014
dbSNP: rs6060278
rs6060278
MMP24-AS1-EDEM2
2 20 35165459 regulatory region variant T/C snv 0.26 0.800 1.000 2 2010 2012
dbSNP: rs6088735
rs6088735
MMP24-AS1-EDEM2
3 20 35157873 intergenic variant C/T snv 0.25 0.800 1.000 2 2010 2012
dbSNP: rs7580658
rs7580658
MAP3K2-DT
2 2 127401685 downstream gene variant G/A snv 0.34 0.800 1.000 2 2010 2014
dbSNP: rs1011019
rs1011019
ERCC3
2 2 127279984 intron variant A/G;T snv 0.75 0.700 1.000 1 2010 2010
dbSNP: rs1018503
rs1018503
NCOA6
2 20 34737712 intron variant T/A;G snv 0.700 1.000 1 2010 2010
dbSNP: rs1019842
rs1019842
MYO7B
2 2 127547621 intron variant T/C snv 0.86 0.700 1.000 1 2010 2010
dbSNP: rs10208529
rs10208529
C2orf16
5 0.925 0.120 2 27563321 intron variant A/T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs1033797
rs1033797
EDEM2 ; MMP24-AS1-EDEM2
2 20 35131884 intron variant T/C snv 0.27 0.700 1.000 1 2010 2010
dbSNP: rs1033799
rs1033799
EDEM2 ; MMP24-AS1-EDEM2
2 20 35132230 intron variant C/A snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs1040552
rs1040552 		2 20 33861523 regulatory region variant A/G snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs10485505
rs10485505
ITCH
3 1.000 0.080 20 34437762 intron variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs10485508
rs10485508
TRPC4AP
2 20 35017295 intron variant C/T snv 8.0E-02 0.700 1.000 1 2010 2010
dbSNP: rs10496661
rs10496661
MAP3K2
2 2 127332568 intron variant G/T snv 0.24 0.700 1.000 1 2010 2010
dbSNP: rs1058003
rs1058003
TRPC4AP ; MYH7B
2 20 35002614 3 prime UTR variant G/A snv 0.58 0.700 1.000 1 2010 2010
dbSNP: rs10803588
rs10803588
MYO7B ; LOC105373609
2 2 127570800 intron variant C/T snv 0.37 0.700 1.000 1 2010 2010
dbSNP: rs10875492
rs10875492
TRPC4AP
2 20 35043604 intron variant C/T snv 0.58 0.700 1.000 1 2010 2010
dbSNP: rs10928772
rs10928772
MYO7B
2 2 127584028 intron variant T/G snv 0.35 0.700 1.000 1 2010 2010
dbSNP: rs11167260
rs11167260
PROCR ; MMP24-AS1-EDEM2
2 20 35187397 intron variant G/A snv 9.1E-02 0.700 1.000 1 2010 2010
dbSNP: rs1124511
rs1124511
EDEM2 ; MMP24-AS1-EDEM2
2 20 35148894 upstream gene variant A/C snv 0.48 0.700 1.000 1 2010 2010
dbSNP: rs1158867
rs1158867
PROC
3 1.000 0.080 2 127419801 splice region variant C/T snv 0.51 0.800 1.000 1 2010 2010
dbSNP: rs1160297
rs1160297
LOC105369165
3 2 53010182 intergenic variant G/C snv 0.69 0.700 1.000 1 2007 2007