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: rs7078160
rs7078160
SHTN1
4 0.851 0.120 10 117068049 intron variant G/A snv 0.19 0.800 1.000 5 2010 2018
dbSNP: rs7017252
rs7017252
CCDC26
2 0.925 0.120 8 128938598 intron variant C/T snv 0.32 0.800 1.000 4 2009 2017
dbSNP: rs987525
rs987525
CCDC26
7 0.807 0.160 8 128933908 intron variant C/A snv 0.31 0.800 1.000 4 2009 2012
dbSNP: rs12546523
rs12546523
CCDC26
1 1.000 0.080 8 128973864 intron variant G/A snv 0.49 0.700 1.000 3 2009 2012
dbSNP: rs12547241
rs12547241
CCDC26
1 1.000 0.080 8 128940263 intron variant G/A snv 0.38 0.700 1.000 3 2009 2012
dbSNP: rs742071
rs742071
PAX7
2 0.925 0.120 1 18653380 intron variant G/T snv 0.39 0.800 1.000 3 2010 2017
dbSNP: rs882083
rs882083
CCDC26
1 1.000 0.080 8 128970510 intron variant C/T snv 0.41 0.700 1.000 3 2009 2012
dbSNP: rs11787407
rs11787407
CCDC26
1 1.000 0.080 8 128973194 intron variant A/G snv 0.48 0.700 1.000 2 2010 2012
dbSNP: rs12542837
rs12542837
CCDC26
1 1.000 0.080 8 128914415 intron variant T/C snv 0.46 0.700 1.000 2 2010 2012
dbSNP: rs12548036
rs12548036
CCDC26
1 1.000 0.080 8 128935636 intron variant G/A;T snv 0.700 1.000 2 2010 2012
dbSNP: rs126280
rs126280
UTP25
1 1.000 0.080 1 209846479 intron variant A/G;T snv 0.700 1.000 2 2010 2012
dbSNP: rs1470206
rs1470206
CCDC26 ; LINC00976
1 1.000 0.080 8 128965218 intron variant T/C snv 0.54 0.700 1.000 2 2010 2012
dbSNP: rs1519841
rs1519841
CCDC26
1 1.000 0.080 8 128907554 intron variant T/C;G snv 0.700 1.000 2 2010 2012
dbSNP: rs1519847
rs1519847
CCDC26
1 1.000 0.080 8 128903514 intron variant C/T snv 0.46 0.700 1.000 2 2010 2012
dbSNP: rs1519849
rs1519849
CCDC26
1 1.000 0.080 8 128884721 intron variant T/A;C snv 0.63 0.700 1.000 2 2010 2012
dbSNP: rs1519850
rs1519850
CCDC26
1 1.000 0.080 8 128884575 intron variant C/T snv 0.77 0.700 1.000 2 2010 2012
dbSNP: rs1530300
rs1530300
CCDC26
1 1.000 0.080 8 128907212 intron variant T/C snv 0.24 0.700 1.000 2 2010 2012
dbSNP: rs1850889
rs1850889
CCDC26
1 1.000 0.080 8 128878159 intron variant A/G snv 0.72 0.700 1.000 2 2010 2012
dbSNP: rs2004375
rs2004375
CCDC26
1 1.000 0.080 8 128990484 intron variant C/T snv 0.16 0.700 1.000 2 2009 2012
dbSNP: rs2073485
rs2073485
IRF6
1 1.000 0.080 1 209789449 intron variant G/A snv 0.21 0.700 1.000 2 2010 2012
dbSNP: rs2235375
rs2235375
IRF6
7 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.020 0.500 2 2015 2018
dbSNP: rs2395855
rs2395855
CCDC26
1 1.000 0.080 8 128828493 intron variant T/A;C snv 0.700 1.000 2 2010 2012
dbSNP: rs4132699
rs4132699
SEMA4D
2 0.925 0.120 9 89421512 intron variant A/C snv 0.43 0.800 1.000 2 2012 2017
dbSNP: rs4147812
rs4147812
ABCA4
1 1.000 0.080 1 94109487 intron variant A/C;T snv 0.700 1.000 2 2010 2012
dbSNP: rs4733532
rs4733532
CCDC26
1 1.000 0.080 8 128869053 intron variant G/A;C snv 0.700 1.000 2 2010 2012