Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338845
rs80338845
0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.730 1.000 15 2000 2017
dbSNP: rs80338844
rs80338844
0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.720 1.000 15 2000 2017
dbSNP: rs80338847
rs80338847
0.882 0.200 11 112094906 missense variant T/C;G snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.710 1.000 13 2000 2017
dbSNP: rs104894302
rs104894302
0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.700 1.000 13 2000 2017
dbSNP: rs104894304
rs104894304
0.827 0.240 11 112094831 missense variant A/G snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.700 1.000 13 2000 2017
dbSNP: rs1555187633
rs1555187633
1.000 0.040 11 112094933 missense variant G/T snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.700 1.000 5 2000 2004
dbSNP: rs104894309
rs104894309
0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1060503770
rs1060503770
0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs11214077
rs11214077
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1420960657
rs1420960657
0.851 0.080 11 112093192 missense variant A/G snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs34677591
rs34677591
0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs80338842
rs80338842
0.790 0.280 11 112086910 start lost G/A;C snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs80338846
rs80338846
0.882 0.080 11 112088981 missense variant T/C snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs899706404
rs899706404
0.925 0.040 11 112087944 missense variant A/G snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.010 1.000 1 2008 2008