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: rs137853086
rs137853086 		1.000 2 165770217 stop gained G/A snv 6.8E-05 2.0E-04
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 1.000 2 2004 2005
dbSNP: rs1968294
rs1968294 		2 165761752 splice donor variant C/T snv 0.44 0.45
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs137853087
rs137853087 		1.000 2 165749747 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs137853088
rs137853088 		1.000 2 165759443 stop gained A/C snv
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs137853089
rs137853089 		1.000 2 165755015 stop gained G/A snv
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs137853090
rs137853090 		1.000 2 165761928 missense variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs137853091
rs137853091 		1.000 2 165758862 missense variant G/T snv 4.0E-06
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs267606841
rs267606841 		0.882 0.120 2 165749801 missense variant A/C snv
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs375879489
rs375879489 		1.000 2 165754927 splice region variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs745655924
rs745655924 		1.000 2 165754931 splice donor variant C/T snv
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs760830864
rs760830864 		1.000 2 165754626 splice donor variant C/A;T snv 4.0E-06
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs761396172
rs761396172 		1.000 2 165765058 splice acceptor variant T/A;C snv 2.8E-05; 1.6E-05; 2.4E-05
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs766750282
rs766750282 		1.000 2 165761939 frameshift variant -/G delins 1.6E-05 7.0E-06
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs775341386
rs775341386 		1.000 2 165770196 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs786205250
rs786205250 		1.000 2 165764895 frameshift variant G/- del
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs1159208891
rs1159208891 		0.925 0.080 2 165757126 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1159208891
rs1159208891 		0.925 0.080 2 165757126 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs13427924
rs13427924 		1.000 0.040 2 165751236 intron variant T/C snv 0.39
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs137853090
rs137853090 		1.000 2 165761928 missense variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs137853091
rs137853091 		1.000 2 165758862 missense variant G/T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs267606841
rs267606841 		0.882 0.120 2 165749801 missense variant A/C snv
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs267606841
rs267606841 		0.882 0.120 2 165749801 missense variant A/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs267606841
rs267606841 		0.882 0.120 2 165749801 missense variant A/C snv
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs267606841
rs267606841 		0.882 0.120 2 165749801 missense variant A/C snv
CUI: C1853256
Disease: Hyperostosis-hyperphosphatemia syndrome
Hyperostosis-hyperphosphatemia syndrome 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4621175
rs4621175 		1.000 0.040 2 165792282 intron variant A/C snv 0.80
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017