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: rs78861628
rs78861628
PROKR2
4 0.851 0.160 20 5302393 missense variant G/A snv 3.9E-03 1.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs1487309678
rs1487309678
SEMA3A
5 0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs199979628
rs199979628
SEMA3A
2 0.925 0.160 7 84134868 missense variant G/A snv 5.3E-04 4.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs267607165
rs267607165
TUBB3
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.020 1.000 2 2013 2015
dbSNP: rs1269636220
rs1269636220
WDR11
5 0.851 0.280 10 120865109 missense variant A/G snv 0.010 1.000 1 2015 2015