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: rs1034566
rs1034566
ARVCF
1 22 19996754 intron variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs10512472
rs10512472
SLFN14
1 17 35557785 missense variant T/C snv 0.21 0.19 0.800 1.000 1 2011 2011
dbSNP: rs10914144
rs10914144
DNM3
3 1 171980610 intron variant T/C snv 0.78 0.800 1.000 1 2011 2011
dbSNP: rs11628318
rs11628318 		1 14 102573750 regulatory region variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs11789898
rs11789898
BRD3
3 9 134060541 intron variant G/T snv 0.14 0.800 1.000 1 2011 2011
dbSNP: rs13300663
rs13300663
RCL1
3 9 4814948 intron variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs1668871
rs1668871
TMCC2
2 1 205268009 intron variant T/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs17030845
rs17030845
THADA
1 2 43460740 intron variant C/T snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs1719271
rs1719271 		1 15 64891602 intron variant A/G snv 0.20 0.800 1.000 1 2011 2011
dbSNP: rs17356664
rs17356664
MARK4 ; EXOC3L2
1 19 45237513 intron variant C/T snv 0.28 0.800 1.000 1 2011 2011
dbSNP: rs17568628
rs17568628 		2 5 76751114 intergenic variant T/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs17824620
rs17824620
RPH3A
2 12 112663189 intron variant C/A snv 0.26 0.800 1.000 1 2011 2011
dbSNP: rs2070729
rs2070729
IRF1 ; IRF1-AS1
1 5 132484229 non coding transcript exon variant C/A;T snv 0.52 0.800 1.000 1 2011 2011
dbSNP: rs2297067
rs2297067
EXOC3L4
2 1.000 0.080 14 103100448 missense variant C/T snv 0.22 0.20 0.800 1.000 1 2011 2011
dbSNP: rs2336384
rs2336384
MFN2
2 1.000 0.040 1 11986006 intron variant G/T snv 0.65 0.800 1.000 1 2011 2011
dbSNP: rs3792366
rs3792366
PDIA5
1 3 123121029 intron variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs3809566
rs3809566
TPM1
1 15 63041525 upstream gene variant A/G snv 0.69 0.800 1.000 1 2011 2011
dbSNP: rs3811444
rs3811444
TRIM58
12 1 247876149 missense variant C/T snv 0.31 0.26 0.800 1.000 1 2011 2011
dbSNP: rs397969
rs397969 		1 17 19900934 upstream gene variant T/C snv 0.41 0.800 1.000 1 2011 2011
dbSNP: rs399604
rs399604
HLA-DOA
2 1.000 0.120 6 33007237 non coding transcript exon variant T/C snv 0.40 0.40 0.800 1.000 1 2011 2011
dbSNP: rs4148441
rs4148441
ABCC4
1 13 95245953 intron variant A/G snv 0.91 0.800 1.000 1 2011 2011
dbSNP: rs423955
rs423955
RCL1
1 9 4792339 upstream gene variant C/A;G;T snv 0.56 0.800 1.000 1 2014 2014
dbSNP: rs4246215
rs4246215
FEN1 ; FADS2
29 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.800 1.000 1 2011 2011
dbSNP: rs441460
rs441460
CARMIL1
1 6 25548060 intron variant G/A snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs457287
rs457287
RCL1
1 9 4834394 intron variant A/G;T snv 0.800 1.000 1 2013 2013