Source: ALL
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: rs331142
rs331142
ROBO1
1 1.000 3 78871694 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs57809907
rs57809907
DNAAF4 ; DNAAF4-CCPG1
2 0.925 0.120 15 55430684 stop gained C/A snv 0.10 0.18 0.010 < 0.001 1 2013 2013
dbSNP: rs7523017
rs7523017
KIAA0319L
2 0.925 0.120 1 35549410 intron variant G/A snv 4.6E-02 0.010 1.000 1 2008 2008