Source: BEFREE ×
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: rs13006529
rs13006529
CASP10
6 0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42 0.010 1.000 1 2008 2008
dbSNP: rs137854599
rs137854599
CDKN2A
2 0.882 0.080 9 21971093 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs143670820
rs143670820
CDK4 ; TSPAN31 ; MIR6759
1 1.000 0.040 12 57749249 missense variant G/C;T snv 5.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1799944
rs1799944
BRCA2
5 0.882 0.080 13 32337326 missense variant A/G snv 5.4E-02 4.5E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs1800054
rs1800054
ATM
7 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2008 2008
dbSNP: rs387906659
rs387906659
AKT2
13 0.742 0.280 19 40257052 stop gained C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs397514606
rs397514606
AKT3
13 0.763 0.320 1 243695714 missense variant C/T snv 0.710 1.000 1 2008 2008
dbSNP: rs4845618
rs4845618
IL6R
4 0.851 0.160 1 154427539 intron variant G/T snv 0.53 0.010 1.000 1 2008 2008
dbSNP: rs4845622
rs4845622
IL6R
1 1.000 0.040 1 154438943 intron variant A/C snv 0.32 0.010 1.000 1 2008 2008
dbSNP: rs533045918
rs533045918
FGFR3
1 1.000 0.040 4 1804968 missense variant C/G;T snv 2.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs6684439
rs6684439
IL6R
2 0.925 0.080 1 154423363 intron variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs8192284
rs8192284
IL6R
17 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs886040456
rs886040456
BRCA2
3 0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins 0.010 < 0.001 1 2008 2008
dbSNP: rs1057520031
rs1057520031
KIT
1 1.000 0.040 4 54727440 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1064794292
rs1064794292
CDKN2A
1 0.882 0.200 9 21974760 missense variant C/T snv 0.710 1.000 1 2009 2009
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs1156242341
rs1156242341
PAX3
1 1.000 0.040 2 222202072 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1194330242
rs1194330242
MGRN1
1 1.000 0.040 16 4681743 missense variant A/G snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs1269304342
rs1269304342
HPS1
1 1.000 0.040 10 98425560 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs147198552
rs147198552
CXCR4
3 0.882 0.080 2 136115450 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1800407
rs1800407
OCA2
6 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1800872
rs1800872
IL10 ; IL19
118 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2009 2009