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: rs397516355
rs397516355
1 19 55154035 stop gained C/A;T snv 0.700 1.000 3 2012 2017
dbSNP: rs397516356
rs397516356
1 19 55151917 missense variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs397516352
rs397516352
1 19 55154115 missense variant A/G snv 0.700 0
dbSNP: rs730881071
rs730881071
2 1.000 0.040 19 55154158 missense variant G/A snv 8.0E-06 0.010 1.000 1 2003 2003