BRAT1, BRCA1 associated ATM activator 1, 221927

N. diseases: 61; N. variants: 16
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL ×
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: rs1085307958
rs1085307958 		0.925 7 2544920 missense variant A/G snv
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.800 0
dbSNP: rs730880324
rs730880324 		0.882 7 2543754 frameshift variant -/T delins 2.5E-04; 2.0E-05 2.3E-04
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 1.000 3 2012 2016
dbSNP: rs749240175
rs749240175 		1.000 7 2541305 frameshift variant CT/- del 6.6E-05 3.5E-05
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 1.000 2 2015 2016
dbSNP: rs776913277
rs776913277 		1.000 7 2545044 frameshift variant -/T delins 2.2E-04
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 1.000 2 2015 2016
dbSNP: rs794729222
rs794729222 		1.000 7 2538678 stop gained C/T snv
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 1.000 2 2012 2012
dbSNP: rs1131691679
rs1131691679 		1.000 7 2543590 missense variant C/T snv
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 0
dbSNP: rs1554293869
rs1554293869 		1.000 7 2539577 frameshift variant CGAGGGCGGAGTCCCTCACCTC/GA delins
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 0
dbSNP: rs1554295159
rs1554295159 		1.000 7 2542171 stop gained G/A snv
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 0
dbSNP: rs1554296088
rs1554296088 		1.000 7 2543939 frameshift variant -/ATCTTCTC ins
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 0
dbSNP: rs1554297097
rs1554297097 		1.000 7 2547435 frameshift variant C/- del
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 0
dbSNP: rs1562596651
rs1562596651 		1.000 7 2554327 stop gained C/T snv
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 0
dbSNP: rs727505363
rs727505363 		1.000 7 2547430 missense variant A/G snv
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 0
dbSNP: rs727505364
rs727505364 		1.000 7 2542172 frameshift variant GA/- delins
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 0
dbSNP: rs727505365
rs727505365 		1.000 7 2541442 frameshift variant C/- delins
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.700 0