CCDC6, coiled-coil domain containing 6, 8030

N. diseases: 156; N. variants: 6
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: rs1177701
rs1177701 		10 59864939 intron variant A/G snv 0.49
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs16914105
rs16914105 		1.000 0.040 10 59789044 3 prime UTR variant C/T snv 4.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2271564
rs2271564 		1.000 0.040 10 59794248 intron variant A/C snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2440907
rs2440907 		10 59879046 intron variant G/T snv 0.44
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs7917618
rs7917618 		1.000 0.040 10 59790029 3 prime UTR variant G/A snv 5.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs747463591
rs747463591 		0.882 0.080 10 59906391 missense variant C/A;G;T snv 4.9E-06; 9.9E-06
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs747463591
rs747463591 		0.882 0.080 10 59906391 missense variant C/A;G;T snv 4.9E-06; 9.9E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs747463591
rs747463591 		0.882 0.080 10 59906391 missense variant C/A;G;T snv 4.9E-06; 9.9E-06
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015