Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786205436
rs786205436
SDHD
0.882 0.080 11 112088972 missense variant A/G;T snv
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.810 1.000 1 2015 2015
dbSNP: rs80338845
rs80338845
SDHD
0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.730 1.000 3 2000 2017
dbSNP: rs80338844
rs80338844
SDHD
0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.720 1.000 2 2000 2017
dbSNP: rs1060503770
rs1060503770
SDHD
0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.710 1.000 1 2006 2006
dbSNP: rs786205436
rs786205436
SDHD
0.882 0.080 11 112088972 missense variant A/G;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.710 1.000 1 2015 2015
dbSNP: rs80338847
rs80338847
SDHD
0.882 0.200 11 112094906 missense variant T/C;G snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.710 1.000 1 2000 2017
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2004 2015
dbSNP: rs34677591
rs34677591
SDHD ; TIMM8B
0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.020 1.000 2 2006 2012
dbSNP: rs34677591
rs34677591
SDHD ; TIMM8B
0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.020 1.000 2 2006 2012
dbSNP: rs34677591
rs34677591
SDHD ; TIMM8B
0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		0.020 1.000 2 2000 2002
dbSNP: rs80338842
rs80338842
SDHD ; TIMM8B
0.790 0.280 11 112086910 start lost G/A;C snv
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.020 1.000 2 2011 2015
dbSNP: rs104894309
rs104894309
SDHD ; TIMM8B
0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2008 2008
dbSNP: rs104894309
rs104894309
SDHD ; TIMM8B
0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 1.000 1 2008 2008
dbSNP: rs104894309
rs104894309
SDHD ; TIMM8B
0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2008 2008
dbSNP: rs104894310
rs104894310
SDHD ; TIMM8B
1.000 0.040 11 112086921 stop gained G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs1060503770
rs1060503770
SDHD
0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 1.000 1 2006 2006
dbSNP: rs1060503770
rs1060503770
SDHD
0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 1.000 1 2006 2006
dbSNP: rs10789859
rs10789859
SDHD
1.000 0.080 11 112089809 intron variant T/C snv 0.31
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs10891319
rs10891319
SDHD
1.000 0.080 11 112096881 intron variant A/G snv 0.31
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2019 2019
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.010 1.000 1 2015 2015
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		0.010 1.000 1 2002 2002
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 1.000 1 2002 2002
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 1.000 1 2017 2017