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: 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: rs11214077
rs11214077
SDHD ; TIMM8B
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.010 < 0.001 1 2005 2005
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		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: 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: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		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: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		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: C0549473
Disease: Thyroid carcinoma
Thyroid 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: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		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: 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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 1.000 1 2017 2017