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: rs3094609
rs3094609
HCG27
5 0.925 0.080 6 31197789 non coding transcript exon variant T/C snv 0.86 0.89 0.700 1.000 1 2010 2010
dbSNP: rs3130981
rs3130981
CDSN ; PSORS1C1
5 0.925 0.080 6 31116036 missense variant T/C;G snv 0.76 0.700 1.000 2 2009 2010
dbSNP: rs3132552
rs3132552
CDSN ; PSORS1C1
4 1.000 6 31117492 synonymous variant A/G snv 0.76 0.78 0.700 1.000 1 2010 2010
dbSNP: rs3130984
rs3130984
CDSN ; PSORS1C1
4 1.000 6 31117187 missense variant T/C snv 0.76; 4.0E-06 0.78 0.700 1.000 1 2010 2010
dbSNP: rs3132553
rs3132553
CDSN ; PSORS1C1
4 1.000 6 31117423 synonymous variant A/G snv 0.75 0.78 0.700 1.000 1 2010 2010
dbSNP: rs3130560
rs3130560
PSORS1C1
4 1.000 6 31129676 intron variant T/A;G snv 8.2E-06; 0.74 0.700 1.000 1 2010 2010
dbSNP: rs185819
rs185819
TNXB
10 0.851 0.200 6 32082290 missense variant T/A;C;G snv 8.2E-06; 0.58; 4.1E-06 0.700 1.000 1 2010 2010
dbSNP: rs1042126
rs1042126
CDSN ; PSORS1C1
4 1.000 6 31116511 synonymous variant T/C snv 0.57 0.58 0.700 1.000 1 2010 2010
dbSNP: rs3130983
rs3130983
CDSN ; PSORS1C1
5 0.925 0.120 6 31117015 synonymous variant C/T snv 0.57 0.58 0.700 1.000 1 2010 2010
dbSNP: rs3130982
rs3130982
CDSN ; PSORS1C1
4 1.000 6 31116298 synonymous variant G/C;T snv 0.56; 1.3E-02 0.700 1.000 1 2010 2010
dbSNP: rs3130453
rs3130453
TCF19 ; CCHCR1
4 1.000 6 31157072 stop gained C/T snv 0.47 0.48 0.700 1.000 1 2010 2010
dbSNP: rs2844475
rs2844475
AIF1
4 1.000 6 31615378 intron variant G/A snv 0.44 0.34 0.700 1.000 1 2010 2010
dbSNP: rs2736172
rs2736172
PRRC2A ; SNORA38
6 0.882 0.160 6 31623121 non coding transcript exon variant C/T snv 0.41 0.29 0.700 1.000 1 2010 2010
dbSNP: rs9263871
rs9263871
HCG27
4 1.000 6 31202751 non coding transcript exon variant A/G snv 0.39 0.36 0.700 1.000 1 2010 2010
dbSNP: rs1062470
rs1062470
CDSN ; PSORS1C1
5 0.925 0.040 6 31116658 synonymous variant G/A snv 0.37 0.41 0.700 1.000 1 2009 2009
dbSNP: rs1051794
rs1051794
MICA
5 0.925 0.120 6 31411332 missense variant G/A snv 0.34 0.35 0.700 1.000 1 2009 2009
dbSNP: rs2071472
rs2071472
HLA-DOB
5 0.925 0.120 6 32816843 intron variant C/T snv 0.34 0.27 0.700 1.000 1 2009 2009
dbSNP: rs241448
rs241448
TAP2
6 0.882 0.200 6 32828908 stop lost A/G snv 0.32 0.27 0.700 1.000 1 2009 2009
dbSNP: rs241447
rs241447
TAP2
11 0.827 0.280 6 32828974 missense variant T/C snv 0.31 0.26 0.700 1.000 1 2009 2009
dbSNP: rs9266825
rs9266825
MICA
4 1.000 6 31415105 3 prime UTR variant C/A;T snv 0.31; 8.1E-06 0.700 1.000 1 2009 2009
dbSNP: rs241440
rs241440
TAP2
5 0.925 0.120 6 32829584 intron variant C/G;T snv 0.30 0.700 1.000 1 2009 2009
dbSNP: rs9295924
rs9295924
LINC00243
5 0.925 0.120 6 30814584 non coding transcript exon variant G/A snv 0.27 0.17 0.700 1.000 1 2009 2009
dbSNP: rs2229116
rs2229116
RYR3
9 0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21 0.700 1.000 1 2010 2010
dbSNP: rs2301753
rs2301753
RNF39
5 0.925 0.040 6 30071463 missense variant G/T snv 0.18 0.17 0.700 1.000 1 2009 2009
dbSNP: rs4713419
rs4713419
MUC22
4 1.000 6 31025459 intron variant A/G snv 0.15 0.12 0.700 1.000 1 2010 2010