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: rs140608390
rs140608390
CYP27C1
2 2 127213606 intron variant T/C snv 9.0E-03 0.700 1.000 1 2017 2017
dbSNP: rs148639156
rs148639156 		2 6 39144635 intergenic variant A/G snv 3.1E-03 0.700 1.000 1 2017 2017
dbSNP: rs42238
rs42238 		2 7 73416216 intergenic variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6120848
rs6120848
EDEM2 ; MMP24-AS1-EDEM2
2 20 35140875 intron variant T/C snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs13419716
rs13419716
MYO7B
2 2 127593929 intron variant C/T snv 1.4E-02 0.700 1.000 1 2014 2014
dbSNP: rs2420371
rs2420371
F5
4 1 169522317 intron variant G/A snv 0.95 0.700 1.000 1 2012 2012
dbSNP: rs1413885
rs1413885
DNAJC6
3 1 65349976 intron variant C/T snv 0.72 0.700 1.000 1 2011 2011
dbSNP: rs867186
rs867186
PROCR ; MMP24-AS1-EDEM2
15 0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 0.800 1.000 5 2010 2017
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: rs11906160
rs11906160
MYH7B
2 20 34977952 missense variant G/A;T snv 0.12 0.16 0.800 1.000 2 2010 2011
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 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: rs1799810
rs1799810
PROC
5 1.000 0.040 2 127418464 5 prime UTR variant A/T snv 0.38 0.44 0.800 1.000 2 2010 2017
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