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: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.050 1.000 5 2002 2017
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2010 2011
dbSNP: rs11959427
rs11959427
1 1.000 0.040 5 148826465 5 prime UTR variant C/T snv 0.68 0.010 < 0.001 1 2015 2015
dbSNP: rs2053044
rs2053044
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 < 0.001 1 2015 2015
dbSNP: rs2895795
rs2895795
1 1.000 0.040 5 148825403 5 prime UTR variant T/A;G snv 0.010 1.000 1 2015 2015