Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131691075
rs1131691075
NF1
0.827 0.280 17 31235773 splice donor variant G/A;T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.700 1.000 3 2000 2013
dbSNP: rs1131691075
rs1131691075
NF1
0.827 0.280 17 31235773 splice donor variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2001 2001
dbSNP: rs1131691075
rs1131691075
NF1
0.827 0.280 17 31235773 splice donor variant G/A;T snv
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.700 0
dbSNP: rs1131691075
rs1131691075
NF1
0.827 0.280 17 31235773 splice donor variant G/A;T snv
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		0.700 0
dbSNP: rs1131691075
rs1131691075
NF1
0.827 0.280 17 31235773 splice donor variant G/A;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.700 0
dbSNP: rs1131691075
rs1131691075
NF1
0.827 0.280 17 31235773 splice donor variant G/A;T snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		0.700 0