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: rs6013915
rs6013915 		2 20 54193838 intergenic variant G/A snv 3.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs6027072
rs6027072 		2 20 38655427 downstream gene variant G/A snv 7.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs715
rs715
CPS1
13 1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs742642
rs742642
CDKAL1
3 1.000 0.080 6 20664850 intron variant G/A snv 0.21 0.700 1.000 1 2014 2014
dbSNP: rs7578326
rs7578326
LOC646736
7 0.882 0.080 2 226155937 TF binding site variant A/G snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs896232
rs896232 		1 2 2729105 intron variant C/T snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs933360
rs933360
GRB10
2 7 50690548 intron variant C/T snv 0.60 0.700 1.000 1 2014 2014