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: rs137853079
rs137853079
2 1.000 0.120 19 1207021 stop gained C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs397518442
rs397518442
1 1.000 0.120 19 1220630 frameshift variant C/- delins 0.700 0
dbSNP: rs397518443
rs397518443
2 0.925 0.200 19 1222998 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs730881976
rs730881976
4 0.882 0.240 19 1220702 stop gained C/A;G snv 0.700 0
dbSNP: rs375328708
rs375328708
1 1.000 0.120 19 1226602 synonymous variant C/G;T snv 6.7E-05 6.3E-05 0.010 1.000 1 1999 1999