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: rs1396171148
rs1396171148 		0.851 0.200 2 222613892 missense variant T/G snv
CUI: C3150910
Disease: Brain calcification Rajab type
Brain calcification Rajab type 		Nervous System Diseases 0.800 1.000 3 2018 2018
dbSNP: rs1466642025
rs1466642025 		0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06
CUI: C3150910
Disease: Brain calcification Rajab type
Brain calcification Rajab type 		Nervous System Diseases 0.800 1.000 3 2018 2018
dbSNP: rs1553553086
rs1553553086 		0.827 0.280 2 222623699 missense variant C/T snv
CUI: C3150910
Disease: Brain calcification Rajab type
Brain calcification Rajab type 		Nervous System Diseases 0.800 1.000 3 2018 2018
dbSNP: rs773579570
rs773579570 		1.000 0.040 2 222624762 missense variant C/T snv 8.1E-06 7.0E-06
CUI: C3150910
Disease: Brain calcification Rajab type
Brain calcification Rajab type 		Nervous System Diseases 0.800 1.000 3 2018 2018
dbSNP: rs753710639
rs753710639 		0.925 0.040 2 222631623 missense variant G/A snv 4.0E-05 2.8E-05
CUI: C3150910
Disease: Brain calcification Rajab type
Brain calcification Rajab type 		Nervous System Diseases 0.800 0
dbSNP: rs767956337
rs767956337 		1.000 0.040 2 222628884 missense variant C/T snv
CUI: C3150910
Disease: Brain calcification Rajab type
Brain calcification Rajab type 		Nervous System Diseases 0.800 0
dbSNP: rs1553554543
rs1553554543 		0.851 0.200 2 222631606 missense variant T/C snv
CUI: C3150910
Disease: Brain calcification Rajab type
Brain calcification Rajab type 		Nervous System Diseases 0.700 1.000 3 2018 2018
dbSNP: rs1396171148
rs1396171148 		0.851 0.200 2 222613892 missense variant T/G snv
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1396171148
rs1396171148 		0.851 0.200 2 222613892 missense variant T/G snv
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1396171148
rs1396171148 		0.851 0.200 2 222613892 missense variant T/G snv
CUI: C0002940
Disease: Aneurysm
Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs1396171148
rs1396171148 		0.851 0.200 2 222613892 missense variant T/G snv
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1419129874
rs1419129874 		0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06
CUI: C0002940
Disease: Aneurysm
Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs1419129874
rs1419129874 		0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1419129874
rs1419129874 		0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06
CUI: C3150910
Disease: Brain calcification Rajab type
Brain calcification Rajab type 		Nervous System Diseases 0.700 0
dbSNP: rs1419129874
rs1419129874 		0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1419129874
rs1419129874 		0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1466642025
rs1466642025 		0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06
CUI: C0002940
Disease: Aneurysm
Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs1466642025
rs1466642025 		0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1466642025
rs1466642025 		0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1466642025
rs1466642025 		0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1553549333
rs1553549333 		0.925 0.040 2 222600060 frameshift variant G/TT delins
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.700 0
dbSNP: rs1553549333
rs1553549333 		0.925 0.040 2 222600060 frameshift variant G/TT delins
CUI: C3150910
Disease: Brain calcification Rajab type
Brain calcification Rajab type 		Nervous System Diseases 0.700 0
dbSNP: rs1553553086
rs1553553086 		0.827 0.280 2 222623699 missense variant C/T snv
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1553553086
rs1553553086 		0.827 0.280 2 222623699 missense variant C/T snv
CUI: C0002940
Disease: Aneurysm
Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553553086
rs1553553086 		0.827 0.280 2 222623699 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0