Source: ALL

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: rs267606604
rs267606604
NF1
0.925 0.120 17 31336328 splice region variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2014 2014
dbSNP: rs267606604
rs267606604
NF1
0.925 0.120 17 31336328 splice region variant A/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.700 0
dbSNP: rs267606604
rs267606604
NF1
0.925 0.120 17 31336328 splice region variant A/G snv
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		0.700 0