Source: BEFREE

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: rs777369021
rs777369021
NF1
1.000 0.120 17 31200538 synonymous variant T/C snv 8.4E-05 1.0E-04
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.010 1.000 1 2007 2007