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: rs1057517662
rs1057517662 		1.000 5 151667555 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4225301
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII
OSTEOGENESIS IMPERFECTA, TYPE XVII 		0.800 0
dbSNP: rs1057517663
rs1057517663 		1.000 5 151664183 missense variant C/T snv
CUI: C4225301
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII
OSTEOGENESIS IMPERFECTA, TYPE XVII 		0.800 0
dbSNP: rs17718324
rs17718324 		5 151678618 intron variant G/A snv 5.9E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2008 2008
dbSNP: rs41290587
rs41290587 		5 151666362 missense variant C/T snv 4.3E-03 4.4E-03
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs72800245
rs72800245 		5 151670923 intron variant G/T snv 7.9E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1053411
rs1053411 		1.000 0.040 5 151663542 3 prime UTR variant G/C;T snv 0.21; 4.0E-06
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1059279
rs1059279 		1.000 0.040 5 151662618 3 prime UTR variant A/C;T snv 0.14
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1059829
rs1059829 		1.000 0.040 5 151662468 3 prime UTR variant G/A snv 0.45
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11950384
rs11950384 		1.000 0.080 5 151663652 intron variant G/A snv 0.17
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2304052
rs2304052 		1.000 0.080 5 151674666 synonymous variant T/C snv 0.10 0.18
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs3210714
rs3210714 		0.882 0.120 5 151662371 3 prime UTR variant C/T snv 0.45
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3210714
rs3210714 		0.882 0.120 5 151662371 3 prime UTR variant C/T snv 0.45
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3210714
rs3210714 		0.882 0.120 5 151662371 3 prime UTR variant C/T snv 0.45
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs756254503
rs756254503 		0.925 0.120 5 151669740 missense variant G/C snv 4.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1999 1999
dbSNP: rs756254503
rs756254503 		0.925 0.120 5 151669740 missense variant G/C snv 4.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs7719521
rs7719521 		0.882 0.120 5 151669843 intron variant A/C snv 0.65
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7719521
rs7719521 		0.882 0.120 5 151669843 intron variant A/C snv 0.65
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs7719521
rs7719521 		0.882 0.120 5 151669843 intron variant A/C snv 0.65
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018