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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.800 1.000 2 2011 2012
dbSNP: rs10752747
rs10752747
MMEL1
2 1 2593476 intron variant G/T snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs10903122
rs10903122 		5 0.882 0.200 1 24977085 intergenic variant A/G snv 0.56 0.700 1.000 1 2011 2011
dbSNP: rs11586238
rs11586238 		4 0.925 0.160 1 116720516 regulatory region variant C/G snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs12138909
rs12138909
MMEL1
2 1 2607299 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs1772408
rs1772408
IFI16
2 1 159035859 intron variant A/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs2056626
rs2056626
CD247
5 0.882 0.080 1 167451188 intron variant T/G snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs2816316
rs2816316
LOC105371664
5 0.882 0.200 1 192567683 intron variant C/A snv 0.79 0.700 1.000 1 2011 2011
dbSNP: rs296547
rs296547
MROH3P
5 0.882 0.200 1 200923009 intron variant T/C snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs3748816
rs3748816
MMEL1
7 0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46 0.700 1.000 1 2011 2011
dbSNP: rs3890745
rs3890745
MMEL1
4 0.925 0.200 1 2622185 intron variant T/C snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs4648356
rs4648356
TTC34
3 1.000 0.080 1 2792599 intron variant C/A snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs7523907
rs7523907
CD247 ; LOC101928512
3 1.000 0.080 1 167458010 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs864537
rs864537
CD247
4 0.925 0.200 1 167442147 intron variant A/G snv 0.29 0.800 1.000 1 2011 2011
dbSNP: rs10932019
rs10932019 		2 2 203764087 downstream gene variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs11568821
rs11568821
PDCD1 ; LOC105373977
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs11676922
rs11676922
AFF3
4 0.925 0.160 2 100190478 intron variant T/A snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs1194849
rs1194849
SPRED2
2 2 65379519 intron variant T/C snv 0.49 0.700 1.000 1 2011 2011
dbSNP: rs13003464
rs13003464
PUS10
7 0.827 0.200 2 60959694 intron variant A/G snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs13010713
rs13010713
LINC01934
5 0.882 0.200 2 181131318 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs13031237
rs13031237
REL
3 1.000 0.120 2 60908994 intron variant G/T snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs1355208
rs1355208 		2 2 30222456 intergenic variant A/G snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs17035378
rs17035378
PLEK ; LOC101927723
5 0.882 0.200 2 68371823 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1876518
rs1876518
SPRED2
2 2 65381775 intron variant C/T snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2019 2019