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: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057519929
rs1057519929 		0.776 0.320 3 179199066 missense variant G/A snv
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057519930
rs1057519930 		1.000 0.080 3 179199142 missense variant G/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1057519941
rs1057519941 		0.776 0.240 3 179203761 missense variant T/C;G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1057519942
rs1057519942 		0.724 0.320 3 179203760 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.700 0
dbSNP: rs1064793732
rs1064793732 		0.882 0.320 3 179204536 missense variant G/A snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs121913272
rs121913272 		0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		0.700 0