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: rs142164373
rs142164373 		1.000 9 35090266 missense variant G/A snv
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.800 1.000 4 2012 2017
dbSNP: rs1214104267
rs1214104267 		1.000 9 35093040 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 1.000 4 2012 2017
dbSNP: rs757441073
rs757441073 		1.000 9 35095211 missense variant G/A snv 2.0E-05
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 1.000 4 2012 2017
dbSNP: rs755750516
rs755750516 		1.000 9 35090673 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 1.000 2 2012 2014
dbSNP: rs556766
rs556766 		9 35089051 3 prime UTR variant A/C snv 1.00 0.98
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs774508288
rs774508288 		0.925 0.240 9 35092076 frameshift variant -/G delins 1.5E-04
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 1.000 1 2017 2017
dbSNP: rs1391418639
rs1391418639 		1.000 9 35091928 stop gained C/T snv
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 0
dbSNP: rs140470862
rs140470862 		1.000 0.240 9 35091456 missense variant G/A;C snv 3.2E-05
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs150734953
rs150734953 		1.000 9 35094281 missense variant G/A snv 8.1E-06 7.0E-05
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 0
dbSNP: rs1563996824
rs1563996824 		1.000 9 35091880 stop gained C/T snv
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 0
dbSNP: rs1563998317
rs1563998317 		1.000 9 35092615 frameshift variant CA/- delins
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 0
dbSNP: rs368953604
rs368953604 		1.000 9 35090061 splice region variant C/T snv 2.8E-05 4.2E-05
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 0
dbSNP: rs751086453
rs751086453 		1.000 9 35095361 frameshift variant -/C delins 8.0E-06; 4.0E-06
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 0
dbSNP: rs760848629
rs760848629 		1.000 9 35091696 frameshift variant G/-;GG delins
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 0
dbSNP: rs770591449
rs770591449 		1.000 9 35091526 frameshift variant G/-;GG delins 4.0E-06
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 0
dbSNP: rs774508288
rs774508288 		0.925 0.240 9 35092076 frameshift variant -/G delins 1.5E-04
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs779525065
rs779525065 		1.000 9 35093118 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 0
dbSNP: rs909488930
rs909488930 		1.000 9 35091275 missense variant T/G snv 1.4E-05
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 0
dbSNP: rs375108991
rs375108991 		1.000 0.040 9 35092599 stop gained G/A;C snv 2.8E-05 4.9E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs764159748
rs764159748 		1.000 0.040 9 35092602 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.010 1.000 1 2014 2014