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: rs387906857
rs387906857 		1.000 17 40637511 missense variant T/C;G snv
CUI: C4310788
Disease: COFFIN-SIRIS SYNDROME 5
COFFIN-SIRIS SYNDROME 5 		0.800 1.000 2 2012 2013
dbSNP: rs1060501395
rs1060501395 		17 40636451 stop gained G/A snv
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1555605347
rs1555605347 		17 40631651 stop gained G/A snv
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1555605750
rs1555605750 		17 40636017 frameshift variant GC/A delins
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1555605752
rs1555605752 		17 40636055 stop gained G/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555605795
rs1555605795 		1.000 17 40636488 missense variant C/G snv
CUI: C4310788
Disease: COFFIN-SIRIS SYNDROME 5
COFFIN-SIRIS SYNDROME 5 		0.700 0
dbSNP: rs1555605893
rs1555605893 		17 40637502 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs387906857
rs387906857 		1.000 17 40637511 missense variant T/C;G snv
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs397509405
rs397509405 		17 40631693 stop gained G/A snv
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs397509406
rs397509406 		17 40637490 splice donor variant A/G snv
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs397509407
rs397509407 		17 40636453 stop gained C/G;T snv
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs397509408
rs397509408 		17 40632336 frameshift variant -/G delins 4.0E-06; 1.2E-05
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs797045990
rs797045990 		17 40632282 frameshift variant CACT/- delins
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs878854603
rs878854603 		17 40635947 frameshift variant A/- del
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0