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: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
progesterone receptor-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs376040996
rs376040996 		0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1843369
Disease: Vertical supranuclear gaze palsy
Vertical supranuclear gaze palsy 		0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C1843369
Disease: Vertical supranuclear gaze palsy
Vertical supranuclear gaze palsy 		0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs746617574
rs746617574 		1.000 0.160 9 97687096 missense variant C/G snv 1.2E-05 2.1E-05
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 6 1992 2015
dbSNP: rs750218942
rs750218942 		1.000 0.160 9 97687262 splice acceptor variant C/G snv 1.2E-05
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 6 1990 2017
dbSNP: rs104894131
rs104894131 		1.000 0.160 9 97689600 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 1992 1999
dbSNP: rs144725456
rs144725456 		1.000 0.160 9 97675530 missense variant T/C snv 1.3E-04 7.7E-05
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 1992 1999
dbSNP: rs104894132
rs104894132 		0.925 0.160 9 97675579 stop gained G/A snv 3.0E-04 3.2E-04
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1992 2010
dbSNP: rs149226993
rs149226993 		0.925 0.160 9 97684965 stop gained G/A snv 4.0E-06
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1992 2017
dbSNP: rs104894133
rs104894133 		1.000 0.160 9 97684977 stop gained G/A snv 2.4E-05
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1998 2017
dbSNP: rs1200172747
rs1200172747 		0.925 0.160 9 97689570 frameshift variant TAAGA/- delins 4.0E-06 2.1E-05
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1998 2016
dbSNP: rs104894132
rs104894132 		0.925 0.160 9 97675579 stop gained G/A snv 3.0E-04 3.2E-04
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2017
dbSNP: rs1200172747
rs1200172747 		0.925 0.160 9 97689570 frameshift variant TAAGA/- delins 4.0E-06 2.1E-05
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2009 2015