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: rs1536895
rs1536895 		1 1.000 0.080 9 104031445 intergenic variant A/G snv 9.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
17 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
dbSNP: rs793888541
rs793888541
TFAP2A ; TFAP2A-AS2
7 0.807 0.120 6 10404631 missense variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs9653456
rs9653456
RANBP2
1 1.000 0.080 2 109029903 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs12229654
rs12229654 		20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs11066150
rs11066150
NAA25
2 0.925 0.120 12 112080999 intron variant G/A snv 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs12229892
rs12229892
PTPN11
6 0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 0.700 1.000 1 2017 2017
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: rs4752028
rs4752028
SHTN1
6 0.807 0.200 10 117075480 intron variant C/T snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs10886040
rs10886040
SHTN1
3 0.882 0.120 10 117086783 intron variant C/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs6585429
rs6585429
VAX1
2 0.925 0.120 10 117133720 3 prime UTR variant A/G snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs2294426
rs2294426
ADTRP
1 1.000 0.080 6 11729849 intron variant A/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 1998 2019
dbSNP: rs7554547
rs7554547 		2 0.925 0.120 1 11913831 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1269636220
rs1269636220
WDR11
5 0.851 0.280 10 120865109 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1057518960
rs1057518960
GJA1
7 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
dbSNP: rs7692299
rs7692299
LINC01091
2 0.925 0.120 4 123789429 intron variant C/T snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs908822
rs908822 		2 0.925 0.120 4 123985102 regulatory region variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1372995
rs1372995 		1 1.000 0.080 8 128630121 downstream gene variant T/C snv 4.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs7015145
rs7015145
CCDC26
1 1.000 0.080 8 128697039 intron variant A/G snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs1432017
rs1432017
CCDC26
1 1.000 0.080 8 128723840 intron variant C/T snv 0.32 0.700 1.000 1 2009 2009
dbSNP: rs9297775
rs9297775
CCDC26
1 1.000 0.080 8 128724466 intron variant C/A snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs1030608
rs1030608
CCDC26
1 1.000 0.080 8 128727506 intron variant G/A snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs1030609
rs1030609
CCDC26
1 1.000 0.080 8 128727631 intron variant C/A;G snv 0.700 1.000 1 2012 2012