rs137854561
|
0.925 |
0.120 |
17 |
31336750 |
missense variant |
T/C
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2001 |
2001 |
rs1064794277
|
0.827 |
0.280 |
17 |
31232832 |
missense variant |
G/A;C;T
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1131691073
|
0.827 |
0.280 |
17 |
31340553 |
stop gained |
C/T
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1131691075
|
0.827 |
0.280 |
17 |
31235773 |
splice donor variant |
G/A;T
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854550
|
0.790 |
0.360 |
17 |
31258500 |
missense variant |
A/C;G
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854552
|
0.807 |
0.280 |
17 |
31334927 |
stop gained |
C/T
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854556
|
0.827 |
0.280 |
17 |
31235729 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854563
|
0.925 |
0.120 |
17 |
31201044 |
missense variant |
T/C;G
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555534433
|
0.827 |
0.280 |
17 |
31335032 |
splice donor variant |
G/A
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567847905
|
0.827 |
0.280 |
17 |
31227232 |
stop gained |
C/T
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567862991
|
0.827 |
0.280 |
17 |
31260481 |
stop gained |
C/T
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267606601
|
1.000 |
0.120 |
17 |
31358613 |
stop gained |
-/A
|
delins
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267606604
|
0.925 |
0.120 |
17 |
31336328 |
splice region variant |
A/G
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267606610
|
1.000 |
0.120 |
17 |
31343138 |
splice region variant |
A/C
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs771529172
|
0.827 |
0.280 |
17 |
31327719 |
missense variant |
G/A;C;T
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs772295894
|
0.807 |
0.280 |
17 |
31338739 |
stop gained |
C/A;G
|
snv
|
4.0E-06
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs778405030
|
0.827 |
0.280 |
17 |
31206297 |
stop gained |
C/T
|
snv
|
8.0E-06;
4.0E-06
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs786201367
|
0.827 |
0.280 |
17 |
31357308 |
stop gained |
C/T
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs786202112
|
0.827 |
0.280 |
17 |
31327839 |
missense variant |
G/A
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs786203896
|
0.827 |
0.280 |
17 |
31330468 |
stop gained |
G/T
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs876660696
|
0.827 |
0.280 |
17 |
31335016 |
stop gained |
G/A
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886041347
|
0.790 |
0.320 |
17 |
31229061 |
stop gained |
C/T
|
snv
|
|
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|