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: rs1050152
rs1050152
10 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.800 0.917 12 2006 2017
dbSNP: rs272888
rs272888
1 1.000 0.040 5 132329730 intron variant T/C snv 0.71 0.700 1.000 1 2007 2007
dbSNP: rs272879
rs272879
4 0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57 0.010 < 0.001 1 2010 2010
dbSNP: rs272893
rs272893
2 0.925 0.160 5 132327369 missense variant T/C;G snv 0.58; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3792876
rs3792876
7 0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02 0.010 1.000 1 2005 2005