NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: MYOFIBROMATOSIS, INFANTILE, 2 ×
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: rs367543285
rs367543285 		1.000 19 15174248 missense variant A/G snv
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.800 1.000 1 2013 2013
dbSNP: rs1236699193
rs1236699193 		0.882 0.120 19 15192202 missense variant C/A;T snv 4.1E-06
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.700 0
dbSNP: rs1555727841
rs1555727841 		0.882 0.120 19 15180103 missense variant C/T snv
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.700 0
dbSNP: rs201118034
rs201118034 		0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.700 0
dbSNP: rs75068032
rs75068032 		0.851 0.160 19 15187273 missense variant G/A;C;T snv 2.4E-05; 5.2E-05
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.700 0
dbSNP: rs775267348
rs775267348 		0.882 0.120 19 15192020 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.700 0
dbSNP: rs777751303
rs777751303 		0.882 0.120 19 15187126 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.700 0