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: rs254286
rs254286
2 0.925 0.080 5 132862507 synonymous variant G/A snv 0.52 0.50 0.020 1.000 2 2007 2015
dbSNP: rs10491279
rs10491279
3 0.882 0.080 5 132862408 synonymous variant C/T snv 0.14 0.17 0.010 1.000 1 2015 2015
dbSNP: rs1205723048
rs1205723048
3 0.882 0.080 5 132862308 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs138136756
rs138136756
3 0.882 0.080 5 132864365 missense variant C/A snv 1.8E-03 5.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs254285
rs254285
2 0.925 0.080 5 132862595 intron variant C/G snv 0.83 0.89 0.010 1.000 1 2015 2015
dbSNP: rs573335459
rs573335459
2 0.925 0.080 5 132864335 missense variant T/G snv 2.0E-04 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs770542892
rs770542892
2 0.925 0.080 5 132862366 synonymous variant T/C;G snv 8.0E-06; 1.6E-05 0.010 1.000 1 2007 2007