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: rs863225094
rs863225094 		0.827 0.160 19 52213076 missense variant G/A snv
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.800 1.000 2 2015 2015
dbSNP: rs786205227
rs786205227 		1.000 19 52212726 missense variant C/T snv
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.800 0
dbSNP: rs786205228
rs786205228 		0.827 0.080 19 52212718 missense variant C/G;T snv
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.800 0
dbSNP: rs1057519946
rs1057519946 		0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519946
rs1057519946 		0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519946
rs1057519946 		0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519946
rs1057519946 		0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519946
rs1057519946 		0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519946
rs1057519946 		0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519946
rs1057519946 		0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519946
rs1057519946 		0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519946
rs1057519946 		0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947 		0.790 0.160 19 52212730 missense variant G/A snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947 		0.790 0.160 19 52212730 missense variant G/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947 		0.790 0.160 19 52212730 missense variant G/A snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947 		0.790 0.160 19 52212730 missense variant G/A snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947 		0.790 0.160 19 52212730 missense variant G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947 		0.790 0.160 19 52212730 missense variant G/A snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947 		0.790 0.160 19 52212730 missense variant G/A snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947 		0.790 0.160 19 52212730 missense variant G/A snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947 		0.790 0.160 19 52212730 missense variant G/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs786205228
rs786205228 		0.827 0.080 19 52212718 missense variant C/G;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs786205228
rs786205228 		0.827 0.080 19 52212718 missense variant C/G;T snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519946
rs1057519946 		0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1057519946
rs1057519946 		0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		Nervous System Diseases 0.700 0