Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11891778
rs11891778
5 0.882 0.120 2 215045850 stop gained G/A;C;T snv 4.0E-06; 9.2E-03 0.700 0
dbSNP: rs758568142
rs758568142
4 0.925 0.120 2 215019335 splice donor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs876657714
rs876657714
NF1
4 0.882 0.200 17 31327535 stop gained C/T snv 0.010 1.000 1 2005 2005